RYR1 c.2682G>T ;(p.P894=)

Variant ID: 19-38954167-G-T

NM_000540.2(RYR1):c.2682G>T;(p.P894=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: RYR1: P894P
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page