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Ryan Morin edited this page Dec 16, 2024 · 23 revisions

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

[[TOC]]

Relevance tier by entity

Entity Tier Description
PMBL 1 high-confidence PMBL/cHL/GZL gene
BL 1 high-confidence BL gene [@richterRecurrentMutationID32012]
DLBCL 1 high-confidence DLBCL gene[@zhangGeneticHeterogeneityDiffuse2013; @reddyGeneticFunctionalDrivers2017; @chapuyMolecularSubtypesDiffuse2018]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

include:DLBCL_RHOA.md include:BL_RHOA.md

Mutation pattern and selective pressure estimates

include:dnds_RHOA.md

RHOA Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr3 49413010 G>A R5W
chr3 49413009 C>T R5Q
chr3 49412923 A>C Y34D
chr3 49412922 T>A Y34F
chr3 49412899 A>G Y42H
chr3 49412898 T>G Y42S
chr3 49412898 T>C Y42C

include:browser_RHOA.md

Expression

include:mermaid_RHOA.md

References

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