MZL_genes.md
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@@ -7,7 +7,44 @@ link-citations: true
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## Origins of MZL genes
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-![](MZL_sankey-1.svg)
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+
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+```mermaid
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+---
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+config:
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+ sankey:
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+ showValues: false
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+ linkColor: target
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+ width: 800
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+ height: 750
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+ nodeAlignment: right
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+---
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+sankey-beta
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+Vandenbrand 2017, Tier 2 MZL genes, 2
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+Rossi 2012, Tier 1 MZL genes, 10
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+Rossi 2012, Tier 2 MZL genes, 11
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+Yan 2012, Tier 1 MZL genes, 2
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+Parry 2013, Tier 2 MZL genes, 7
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+Spina 2016, Tier 1 MZL genes, 8
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+Spina 2016, Tier 2 MZL genes, 23
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+Jallades 2017, Tier 1 MZL genes, 2
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+Jallades 2017, Tier 2 MZL genes, 26
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+Rossi 2011, Tier 1 MZL genes, 4
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+Rossi 2011, Tier 2 MZL genes, 1
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+MZL genes, MZL-exome, 28
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+MZL-exome, Jallades 2017, 28
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+MZL genes, MZL-Sanger, 5
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+MZL-Sanger, Rossi 2011, 5
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+MZL genes, MZL-exome/panel, 31
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+MZL-exome/panel, Spina 2016, 31
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+MZL genes, MZL-exome, 21
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+MZL-exome, Rossi 2012, 21
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+MZL genes, MZL-panel, 2
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+MZL-panel, Vandenbrand 2017, 2
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+MZL genes, MZL-Panel, 2
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+MZL-Panel, Yan 2012, 2
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+MZL genes, MZL-exome, 7
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+MZL-exome, Parry 2013, 7
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+```
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## Tier 1 MZL genes
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@@ -15,35 +52,35 @@ link-citations: true
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|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]|
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@@ -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]|
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## Tier 2 MZL genes
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@@ -79,10 +116,10 @@ link-citations: true
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|[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]||
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@@ -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]||
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@@ -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]||
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@@ -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