b284c9844b2d15223fec5460a7047b4da19510e4
MZL_genes.md
| ... | ... | @@ -7,7 +7,44 @@ link-citations: true |
| 7 | 7 | |
| 8 | 8 | ## Origins of MZL genes |
| 9 | 9 | |
| 10 | - |
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| 10 | + |
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| 11 | +```mermaid |
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| 12 | +--- |
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| 13 | +config: |
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| 14 | + sankey: |
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| 15 | + showValues: false |
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| 16 | + linkColor: target |
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| 17 | + width: 800 |
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| 18 | + height: 750 |
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| 19 | + nodeAlignment: right |
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| 20 | +--- |
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| 21 | +sankey-beta |
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| 22 | +Vandenbrand 2017, Tier 2 MZL genes, 2 |
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| 23 | +Rossi 2012, Tier 1 MZL genes, 10 |
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| 24 | +Rossi 2012, Tier 2 MZL genes, 11 |
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| 25 | +Yan 2012, Tier 1 MZL genes, 2 |
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| 26 | +Parry 2013, Tier 2 MZL genes, 7 |
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| 27 | +Spina 2016, Tier 1 MZL genes, 8 |
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| 28 | +Spina 2016, Tier 2 MZL genes, 23 |
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| 29 | +Jallades 2017, Tier 1 MZL genes, 2 |
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| 30 | +Jallades 2017, Tier 2 MZL genes, 26 |
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| 31 | +Rossi 2011, Tier 1 MZL genes, 4 |
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| 32 | +Rossi 2011, Tier 2 MZL genes, 1 |
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| 33 | +MZL genes, MZL-exome, 28 |
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| 34 | +MZL-exome, Jallades 2017, 28 |
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| 35 | +MZL genes, MZL-Sanger, 5 |
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| 36 | +MZL-Sanger, Rossi 2011, 5 |
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| 37 | +MZL genes, MZL-exome/panel, 31 |
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| 38 | +MZL-exome/panel, Spina 2016, 31 |
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| 39 | +MZL genes, MZL-exome, 21 |
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| 40 | +MZL-exome, Rossi 2012, 21 |
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| 41 | +MZL genes, MZL-panel, 2 |
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| 42 | +MZL-panel, Vandenbrand 2017, 2 |
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| 43 | +MZL genes, MZL-Panel, 2 |
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| 44 | +MZL-Panel, Yan 2012, 2 |
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| 45 | +MZL genes, MZL-exome, 7 |
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| 46 | +MZL-exome, Parry 2013, 7 |
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| 47 | +``` |
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| 11 | 48 | |
| 12 | 49 | ## Tier 1 MZL genes |
| 13 | 50 | |
| ... | ... | @@ -15,35 +52,35 @@ link-citations: true |
| 15 | 52 | |
| 16 | 53 | |Gene|Tier| First MZL evidence | Other entities | |
| 17 | 54 | |:-:|:-:|:-|:-| |
| 18 | -|[ACTB](ACTB)|1||[@wienandGenomicAnalysesFlowsorted2019b; @lohrDiscoveryPrioritizationSomatic2012a]| |
|
| 19 | -|[ARID1A](ARID1A)|1|[@rossiCodingGenomeSplenic2012c]|[@krysiakRecurrentSomaticMutations2017b; @zhangGeneticHeterogeneityDiffuse2013; @wienandGenomicAnalysesFlowsorted2019b; @loveGeneticLandscapeMutations2012]| |
|
| 55 | +|[ACTB](ACTB)|1||[@lohrDiscoveryPrioritizationSomatic2012a; @wienandGenomicAnalysesFlowsorted2019b]| |
|
| 56 | +|[ARID1A](ARID1A)|1|[@rossiCodingGenomeSplenic2012c]|[@krysiakRecurrentSomaticMutations2017b; @loveGeneticLandscapeMutations2012; @zhangGeneticHeterogeneityDiffuse2013; @wienandGenomicAnalysesFlowsorted2019b]| |
|
| 20 | 57 | |[ATM](ATM)|1|[@braggioGenomicAnalysisMarginal2012]|[@reddyGeneticFunctionalDrivers2017; @beaLandscapeSomaticMutations2013]| |
| 21 | 58 | |[BCL10](BCL10)|1|[@spinaGeneticsNodalMarginal2016b]|[@russler-germainMutationsAssociatedProgression2023b; @morinFrequentMutationHistonemodifying2011]| |
| 22 | -|[BCL7A](BCL7A)|1||[@arthurGenomewideDiscoverySomatic2018; @grandeGenomewideDiscoverySomatic2019; @krysiakRecurrentSomaticMutations2017b; @reichelFlowSortingExome2015a]| |
|
| 23 | -|[BIRC3](BIRC3)|1|[@rossiAlterationBIRC3Multiple2011a]|[@beaLandscapeSomaticMutations2013; @arthurGenomewideDiscoverySomatic2018; @dunsCharacterizationDLBCLPMBL2021b]| |
|
| 59 | +|[BCL7A](BCL7A)|1||[@grandeGenomewideDiscoverySomatic2019; @krysiakRecurrentSomaticMutations2017b; @reichelFlowSortingExome2015a; @arthurGenomewideDiscoverySomatic2018]| |
|
| 60 | +|[BIRC3](BIRC3)|1|[@rossiAlterationBIRC3Multiple2011a]|[@arthurGenomewideDiscoverySomatic2018; @beaLandscapeSomaticMutations2013; @dunsCharacterizationDLBCLPMBL2021b]| |
|
| 24 | 61 | |[BRAF](BRAF)|1||[@tiacciBRAFMutationsHairycell2011a; @loveGeneticLandscapeMutations2012]| |
| 25 | -|[BTG1](BTG1)|1||[@morinFrequentMutationHistonemodifying2011; @burkhardtClinicalRelevanceMolecular2022b; @sarkozyMutationalLandscapeGray2021a]| |
|
| 26 | -|[CARD11](CARD11)|1|[@yanBCRTLRSignaling2012a]|[@paneaWholeGenomeLandscape2019; @wuGeneticHeterogeneityPrimary2016; @morinFrequentMutationHistonemodifying2011; @lenzOncogenicCARD11Mutations2008]| |
|
| 27 | -|[CCND3](CCND3)|1|[@jalladesExomeSequencingIdentifies2017]|[@morinFrequentMutationHistonemodifying2011; @deschGenotypingCirculatingTumor2020; @richterRecurrentMutationID32012a]| |
|
| 62 | +|[BTG1](BTG1)|1||[@sarkozyMutationalLandscapeGray2021a; @morinFrequentMutationHistonemodifying2011; @burkhardtClinicalRelevanceMolecular2022b]| |
|
| 63 | +|[CARD11](CARD11)|1|[@yanBCRTLRSignaling2012a]|[@lenzOncogenicCARD11Mutations2008; @wuGeneticHeterogeneityPrimary2016; @morinFrequentMutationHistonemodifying2011; @paneaWholeGenomeLandscape2019]| |
|
| 64 | +|[CCND3](CCND3)|1|[@jalladesExomeSequencingIdentifies2017]|[@deschGenotypingCirculatingTumor2020; @richterRecurrentMutationID32012a; @morinFrequentMutationHistonemodifying2011]| |
|
| 28 | 65 | |[CXCR4](CXCR4)|1||[@paneaWholeGenomeLandscape2019; @krysiakRecurrentSomaticMutations2017b; @khodabakhshiRecurrentTargetsAberrant2012]| |
| 29 | -|[DTX1](DTX1)|1|[@rossiCodingGenomeSplenic2012c]|[@gomezUltraDeepSequencingReveals2023; @schmitzGeneticsPathogenesisDiffuse2018a; @paneaWholeGenomeLandscape2019]| |
|
| 30 | -|[EP300](EP300)|1|[@rossiCodingGenomeSplenic2012c]|[@paneaWholeGenomeLandscape2019; @pasqualucciInactivatingMutationsAcetyltransferase2011a]| |
|
| 31 | -|[EZH2](EZH2)|1||[@mottokIntegrativeGenomicAnalysis2019b; @morinSomaticMutationsAltering2010a; @loveGeneticLandscapeMutations2012]| |
|
| 66 | +|[DTX1](DTX1)|1|[@rossiCodingGenomeSplenic2012c]|[@schmitzGeneticsPathogenesisDiffuse2018a; @gomezUltraDeepSequencingReveals2023; @paneaWholeGenomeLandscape2019]| |
|
| 67 | +|[EP300](EP300)|1|[@rossiCodingGenomeSplenic2012c]|[@pasqualucciInactivatingMutationsAcetyltransferase2011a; @paneaWholeGenomeLandscape2019]| |
|
| 68 | +|[EZH2](EZH2)|1||[@loveGeneticLandscapeMutations2012; @morinSomaticMutationsAltering2010a; @mottokIntegrativeGenomicAnalysis2019b]| |
|
| 32 | 69 | |[FAS](FAS)|1|[@spinaGeneticsNodalMarginal2016b]|[@schollMutationsRegionFAS2007]| |
| 33 | 70 | |[FAT1](FAT1)|1|[@spinaGeneticsNodalMarginal2016b]|| |
| 34 | -|[FOXO1](FOXO1)|1||[@morinFrequentMutationHistonemodifying2011; @dunsCharacterizationDLBCLPMBL2021b; @schmitzBurkittLymphomaPathogenesis2012]| |
|
| 71 | +|[FOXO1](FOXO1)|1||[@dunsCharacterizationDLBCLPMBL2021b; @morinFrequentMutationHistonemodifying2011; @schmitzBurkittLymphomaPathogenesis2012]| |
|
| 35 | 72 | |[H1-4](H1-4)|1||| |
| 36 | 73 | |[H1-5](H1-5)|1||| |
| 37 | -|[ID3](ID3)|1|[@spinaGeneticsNodalMarginal2016b]|[@schmitzBurkittLymphomaPathogenesis2012; @richterRecurrentMutationID32012a]| |
|
| 74 | +|[ID3](ID3)|1|[@spinaGeneticsNodalMarginal2016b]|[@richterRecurrentMutationID32012a; @schmitzBurkittLymphomaPathogenesis2012]| |
|
| 38 | 75 | |[KLF2](KLF2)|1|[@jalladesExomeSequencingIdentifies2017]|[@deschGenotypingCirculatingTumor2020; @pasqualucciAnalysisCodingGenome2011]| |
| 39 | -|[KLHL6](KLHL6)|1|[@ganapathiGeneticLandscapeDural2016]|[@morinFrequentMutationHistonemodifying2011; @paneaWholeGenomeLandscape2019]| |
|
| 40 | -|[KMT2D](KMT2D)|1|[@rossiCodingGenomeSplenic2012c]|[@morinFrequentMutationHistonemodifying2011; @grandeGenomewideDiscoverySomatic2019; @deschGenotypingCirculatingTumor2020; @beaLandscapeSomaticMutations2013]| |
|
| 76 | +|[KLHL6](KLHL6)|1|[@ganapathiGeneticLandscapeDural2016]|[@paneaWholeGenomeLandscape2019; @morinFrequentMutationHistonemodifying2011]| |
|
| 77 | +|[KMT2D](KMT2D)|1|[@rossiCodingGenomeSplenic2012c]|[@deschGenotypingCirculatingTumor2020; @grandeGenomewideDiscoverySomatic2019; @beaLandscapeSomaticMutations2013; @morinFrequentMutationHistonemodifying2011]| |
|
| 41 | 78 | |[MAP3K14](MAP3K14)|1|[@rossiAlterationBIRC3Multiple2011a]|[@ottoGeneticLesionsTRAF32012a]| |
| 42 | 79 | |[MPEG1](MPEG1)|1||[@morinMutationalStructuralAnalysis2013]| |
| 43 | 80 | |[MYD88](MYD88)|1|[@yanBCRTLRSignaling2012a]|[@ngoOncogenicallyActiveMYD882011a]| |
| 44 | 81 | |[NCOR2](NCOR2)|1|[@spinaGeneticsNodalMarginal2016b]|[@schmitzBurkittLymphomaPathogenesis2012; @sarkozyMutationalLandscapeGray2021a]| |
| 45 | 82 | |[NOL9](NOL9)|1|[@spinaGeneticsNodalMarginal2016b]|[@schmitzGeneticsPathogenesisDiffuse2018a]| |
| 46 | -|[NOTCH1](NOTCH1)|1|[@rossiCodingGenomeSplenic2012c]|[@pasqualucciAnalysisCodingGenome2011; @beaLandscapeSomaticMutations2013; @loveGeneticLandscapeMutations2012]| |
|
| 83 | +|[NOTCH1](NOTCH1)|1|[@rossiCodingGenomeSplenic2012c]|[@loveGeneticLandscapeMutations2012; @beaLandscapeSomaticMutations2013; @pasqualucciAnalysisCodingGenome2011]| |
|
| 47 | 84 | |[NOTCH2](NOTCH2)|1|[@rossiCodingGenomeSplenic2012c]|[@paneaWholeGenomeLandscape2019; @beaLandscapeSomaticMutations2013; @troenNOTCH2MutationsMarginal2008]| |
| 48 | 85 | |[PCLO](PCLO)|1||[@lohrDiscoveryPrioritizationSomatic2012a]| |
| 49 | 86 | |[POU2AF1](POU2AF1)|1||[@krysiakRecurrentSomaticMutations2017b]| |
| ... | ... | @@ -54,9 +91,9 @@ link-citations: true |
| 54 | 91 | |[STAT6](STAT6)|1||[@yildizActivatingSTAT6Mutations2015c; @ritzRecurrentMutationsSTAT62009a]| |
| 55 | 92 | |[TBL1XR1](TBL1XR1)|1|[@rossiCodingGenomeSplenic2012c]|[@mareschalWholeExomeSequencing2016]| |
| 56 | 93 | |[TNFAIP3](TNFAIP3)|1|[@rossiAlterationBIRC3Multiple2011a]|[@compagnoMutationsMultipleGenes2009a; @schmitzTNFAIP3A20Tumor2009a]| |
| 57 | -|[TNFRSF14](TNFRSF14)|1|[@spinaGeneticsNodalMarginal2016b]|[@cheungAcquiredTNFRSF14Mutations2010a]| |
|
| 58 | -|[TP53](TP53)|1|[@rossiCodingGenomeSplenic2012c]|[@morinFrequentMutationHistonemodifying2011; @wildaInactivationARFMDM2p53Pathway2004; @beaLandscapeSomaticMutations2013; @tiacciPervasiveMutationsJAKSTAT2018b]| |
|
| 59 | -|[TRAF3](TRAF3)|1|[@rossiAlterationBIRC3Multiple2011a]|[@pasqualucciAnalysisCodingGenome2011; @ottoGeneticLesionsTRAF32012a]| |
|
| 94 | +|[TNFRSF14](TNFRSF14)|1|[@spinaGeneticsNodalMarginal2016b]|[@morinFrequentMutationHistonemodifying2011; @cheungAcquiredTNFRSF14Mutations2010a]| |
|
| 95 | +|[TP53](TP53)|1|[@rossiCodingGenomeSplenic2012c]|[@beaLandscapeSomaticMutations2013; @morinFrequentMutationHistonemodifying2011; @wildaInactivationARFMDM2p53Pathway2004; @tiacciPervasiveMutationsJAKSTAT2018b]| |
|
| 96 | +|[TRAF3](TRAF3)|1|[@rossiAlterationBIRC3Multiple2011a]|[@ottoGeneticLesionsTRAF32012a; @pasqualucciAnalysisCodingGenome2011]| |
|
| 60 | 97 | |
| 61 | 98 | ## Tier 2 MZL genes |
| 62 | 99 | |
| ... | ... | @@ -79,10 +116,10 @@ link-citations: true |
| 79 | 116 | |[CD79A](CD79A)|2|[@rossiCodingGenomeSplenic2012c]|[@burkhardtClinicalRelevanceMolecular2022b]| |
| 80 | 117 | |[CD9B](CD9B)|2|[@vandenbrandRecurrentMutationsGenes2017]|| |
| 81 | 118 | |[CDC42BPB](CDC42BPB)|2|[@spinaGeneticsNodalMarginal2016b]|| |
| 82 | -|[CDKN2A](CDKN2A)|2|[@spinaGeneticsNodalMarginal2016b]|[@morinMutationalStructuralAnalysis2013; @grandeGenomewideDiscoverySomatic2019]| |
|
| 119 | +|[CDKN2A](CDKN2A)|2|[@spinaGeneticsNodalMarginal2016b]|[@grandeGenomewideDiscoverySomatic2019; @morinMutationalStructuralAnalysis2013]| |
|
| 83 | 120 | |[CLGN](CLGN)|2|[@spinaGeneticsNodalMarginal2016b]|| |
| 84 | 121 | |[CNKSR2](CNKSR2)|2|[@spinaGeneticsNodalMarginal2016b]|| |
| 85 | -|[CREBBP](CREBBP)|2|[@parryWholeExomeSequencing2013]|[@loveGeneticLandscapeMutations2012; @pasqualucciInactivatingMutationsAcetyltransferase2011a; @dunsCharacterizationDLBCLPMBL2021b]| |
|
| 122 | +|[CREBBP](CREBBP)|2|[@parryWholeExomeSequencing2013]|[@loveGeneticLandscapeMutations2012; @dunsCharacterizationDLBCLPMBL2021b; @pasqualucciInactivatingMutationsAcetyltransferase2011a]| |
|
| 86 | 123 | |[DNAH5](DNAH5)|2|[@jalladesExomeSequencingIdentifies2017]|[@morinMutationalStructuralAnalysis2013]| |
| 87 | 124 | |[DNAH7](DNAH7)|2|[@jalladesExomeSequencingIdentifies2017]|| |
| 88 | 125 | |[DNAI1](DNAI1)|2|[@jalladesExomeSequencingIdentifies2017]|| |
| ... | ... | @@ -94,16 +131,16 @@ link-citations: true |
| 94 | 131 | |[EGR2](EGR2)|2|[@rossiCodingGenomeSplenic2012c]|| |
| 95 | 132 | |[EZH1](EZH1)|2|[@jalladesExomeSequencingIdentifies2017]|| |
| 96 | 133 | |[FAT4](FAT4)|2|[@parryWholeExomeSequencing2013]|[@morinMutationalStructuralAnalysis2013; @zhangGenomicLandscapeMantle2014]| |
| 97 | -|[FBXO11](FBXO11)|2|[@parryWholeExomeSequencing2013]|[@richterRecurrentMutationID32012a; @hubschmannMutationalMechanismsShaping2021b]| |
|
| 134 | +|[FBXO11](FBXO11)|2|[@parryWholeExomeSequencing2013]|[@hubschmannMutationalMechanismsShaping2021b; @richterRecurrentMutationID32012a]| |
|
| 98 | 135 | |[GPR98](GPR98)|2|[@spinaGeneticsNodalMarginal2016b]|| |
| 99 | 136 | |[GPS2](GPS2)|2|[@rossiCodingGenomeSplenic2012c]|| |
| 100 | 137 | |[HIST1H1D](HIST1H1D)|2|[@jalladesExomeSequencingIdentifies2017]|[@krysiakRecurrentSomaticMutations2017b; @morinMutationalStructuralAnalysis2013]| |
| 101 | 138 | |[HIST1H2AD](HIST1H2AD)|2|[@jalladesExomeSequencingIdentifies2017]|| |
| 102 | -|[HIST1H2AG](HIST1H2AG)|2|[@rossiCodingGenomeSplenic2012c]|[@morinMutationalStructuralAnalysis2013; @paneaWholeGenomeLandscape2019; @krysiakRecurrentSomaticMutations2017b]| |
|
| 139 | +|[HIST1H2AG](HIST1H2AG)|2|[@rossiCodingGenomeSplenic2012c]|[@morinMutationalStructuralAnalysis2013; @krysiakRecurrentSomaticMutations2017b; @paneaWholeGenomeLandscape2019]| |
|
| 103 | 140 | |[HIST1H2BK](HIST1H2BK)|2|[@rossiCodingGenomeSplenic2012c]|[@paneaWholeGenomeLandscape2019]| |
| 104 | 141 | |[HIST4H4](HIST4H4)|2|[@jalladesExomeSequencingIdentifies2017]|| |
| 105 | 142 | |[HRAS](HRAS)|2|[@jalladesExomeSequencingIdentifies2017]|[@reddyGeneticFunctionalDrivers2017]| |
| 106 | -|[IKBKB](IKBKB)|2|[@rossiAlterationBIRC3Multiple2011a]|[@wienandGenomicAnalysesFlowsorted2019b; @reddyGeneticFunctionalDrivers2017]| |
|
| 143 | +|[IKBKB](IKBKB)|2|[@rossiAlterationBIRC3Multiple2011a]|[@reddyGeneticFunctionalDrivers2017; @wienandGenomicAnalysesFlowsorted2019b]| |
|
| 107 | 144 | |[KAT6A](KAT6A)|2|[@jalladesExomeSequencingIdentifies2017]|| |
| 108 | 145 | |[KDM6A](KDM6A)|2|[@jalladesExomeSequencingIdentifies2017]|| |
| 109 | 146 | |[KIF26A](KIF26A)|2|[@jalladesExomeSequencingIdentifies2017]|| |
| ... | ... | @@ -111,7 +148,7 @@ link-citations: true |
| 111 | 148 | |[MCRS1](MCRS1)|2|[@rossiCodingGenomeSplenic2012c]|| |
| 112 | 149 | |[MGA](MGA)|2|[@jalladesExomeSequencingIdentifies2017]|[@zhangGeneticHeterogeneityDiffuse2013]| |
| 113 | 150 | |[MSL2](MSL2)|2|[@rossiCodingGenomeSplenic2012c]|| |
| 114 | -|[MYC](MYC)|2|[@jalladesExomeSequencingIdentifies2017]|[@johnstonCmycHypermutationBurkitt1992; @dunsCharacterizationDLBCLPMBL2021b; @pasqualucciHypermutationMultipleProtooncogenes2001a]| |
|
| 151 | +|[MYC](MYC)|2|[@jalladesExomeSequencingIdentifies2017]|[@dunsCharacterizationDLBCLPMBL2021b; @pasqualucciHypermutationMultipleProtooncogenes2001a; @johnstonCmycHypermutationBurkitt1992]| |
|
| 115 | 152 | |[MYLK](MYLK)|2|[@jalladesExomeSequencingIdentifies2017]|| |
| 116 | 153 | |[NCOA6](NCOA6)|2|[@jalladesExomeSequencingIdentifies2017]|| |
| 117 | 154 | |[NRAS](NRAS)|2|[@jalladesExomeSequencingIdentifies2017]|| |
| ... | ... | @@ -136,7 +173,7 @@ link-citations: true |
| 136 | 173 | |[TRRAP](TRRAP)|2|[@rossiCodingGenomeSplenic2012c]|[@parryWholeExomeSequencing2013]| |
| 137 | 174 | |[USH2A](USH2A)|2|[@parryWholeExomeSequencing2013]|| |
| 138 | 175 | |[WAC](WAC)|2|[@rossiCodingGenomeSplenic2012c]|[@reddyGeneticFunctionalDrivers2017]| |
| 139 | -|[WNK1](WNK1)|2|[@jalladesExomeSequencingIdentifies2017]|[@hubschmannMutationalMechanismsShaping2021b; @thomasGeneticSubgroupsInform2023]| |
|
| 176 | +|[WNK1](WNK1)|2|[@jalladesExomeSequencingIdentifies2017]|[@thomasGeneticSubgroupsInform2023; @hubschmannMutationalMechanismsShaping2021b]| |
|
| 140 | 177 | |[ZNF9](ZNF9)|2|[@spinaGeneticsNodalMarginal2016b]|| |
| 141 | 178 | |
| 142 | 179 |