BACH2.md
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---
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[[_TOC_]]
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-Mutations in this gene were first described in BL in 2019 by Grande et al.<sup>[@grandeGenomewideDiscoverySomatic2019]</sup>
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+Mutations in this gene were first described in BL in 2019 by Grande et al.[@grandeGenomewideDiscoverySomatic2019]
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## Relevance tier by entity
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## aSHM regions
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|chr_name|hg19_start|hg19_end|region|regulatory_comment|
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-|:--------:|:----------:|:--------:|::--------:|:------------------:|
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+|:--------:|:----------:|:--------:|:--------:|:------------------:|
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|chr6 |90981034 |91016134|[TSS](https://genome.ucsc.edu/s/rdmorin/GAMBL%20hg19?position=chr6%3A90981034%2D91016134)|NA |
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EEF1A1.md
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[[_TOC_]]
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## Overview
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-Mutations in the EEF1A1 gene, which encodes the eukaryotic translation elongation factor 1A1, have been reported in DLBCL and FL.<sup>2</sup> This gene has some recurrent sites of mutations (hot spots). The mutation pattern in DLBCL and FL implies the preferential accumulation of *inactivating mutations*. Paradoxically, one study showed that EEF1A1 knock down reduced proliferation in vitro and in xenograft experiments.<sup>1</sup>
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+Mutations in the EEF1A1 gene, which encodes the eukaryotic translation elongation factor 1A1, have been reported in DLBCL and FL.[@hubschmannMutationalMechanismsShaping2021] This gene has some recurrent sites of mutations (hot spots). The mutation pattern in DLBCL and FL implies the preferential accumulation of *inactivating mutations*. Paradoxically, one study showed that EEF1A1 knock down reduced proliferation in vitro and in xenograft experiments.[@reichelFlowSortingExome2015]
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-Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.<sup>2</sup>
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+Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.[@hubschmannMutationalMechanismsShaping2021]
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## Relevance tier by entity