RYR1 c.12992C>A ;(p.A4331E)

Variant ID: 19-39055966-C-A

NM_000540.2(RYR1):c.12992C>A;(p.A4331E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


UV-exposure, endogenous DNA damage, and DNA replication errors shape the spectra of genome changes in human skin.

Plos Genetics
Saini, Natalie N; Giacobone, Camille K CK; Klimczak, Leszek J LJ; Papas, Brian N BN; Burkholder, Adam B AB; Li, Jian-Liang JL; Fargo, David C DC; Bai, Re R; Gerrish, Kevin K; Innes, Cynthia L CL; Schurman, Shepherd H SH; Gordenin, Dmitry A DA
Publication Date: 2021-01

Variant appearance in text: RYR1: A4331E
PubMed Link: 33444353
Variant Present in the following documents:
  • pgen.1009302.s014.xlsx, sheet 1
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