EHD1 - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @thomasGeneticSubgroupsInform2023,

EHD1

Relevance tier by entity

include:tables/table1_EHD1.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 1.39
BL Thomas cohort 0.00
BL Panea cohort 5.90

Mutation pattern and selective pressure estimates

include:tables/dnds_EHD1.md

include:tables/browser_EHD1.md

Expression

References