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Ryan Morin edited this page Dec 16, 2024 · 20 revisions

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

[[TOC]]

Relevance tier by entity

Entity Tier Description
BL 1 high-confidence BL gene[@paneaWholeGenomeLandscape2019]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

include:BL_BMP7.md

Mutation pattern and selective pressure estimates

include:dnds_BMP7.md

BMP7 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr20 55841157 C>T A8T
chr20 55841157 C>G A8P
chr20 55841156 G>C A8G
chr20 55841155 AG>TA A8V
chr20 55840966 G>T H71Q
chr20 55840965 G>C L72V
chr20 55840962 G>C Q73E
chr20 55840958 C>T G74D
chr20 55840954 C>A K75N
chr20 55840953 G>T H76N
chr20 55840953 G>C H76D
chr20 55840953 G>A H76Y
chr20 55840944 C>G A79P
chr20 55840935 A>G F82L
chr20 55840918 G>C Y87*
chr20 55840913 G>T A89D

include:browser_BMP7.md

Expression

include:mermaid_BMP7.md

References

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