EPPK1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @paneaWholeGenomeLandscape2019,
Relevance tier by entity
include:tables/table1_EPPK1.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 6.47 |
| BL | Thomas cohort | 7.60 |
| BL | Panea cohort | 15.80 |
Mutation pattern and selective pressure estimates
EPPK1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr8 | 144946005 | G>A | R473W |
include:tables/browser_EPPK1.md
Expression
include:tables/mermaid_EPPK1.md