RYR1 c.8417G>A ;(p.R2806H)

Variant ID: 19-38996462-G-A

NM_000540.2(RYR1):c.8417G>A;(p.R2806H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.

Scientific Reports
Wang, Yan Y; Peng, Wei W; Guo, Hong-Yan HY; Li, Hui H; Tian, Jie J; Shi, Yu-Jing YJ; Yang, Xiao X; Yang, Yao Y; Zhang, Wan-Qiao WQ; Liu, Xin X; Liu, Guan-Nan GN; Deng, Tao T; Sun, Yi-Min YM; Xing, Wan-Li WL; Cheng, Jing J; Feng, Zhi-Chun ZC
Publication Date: 2016-06-29

Variant appearance in text: RYR1: Arg2806His; rs778214809
PubMed Link: 27353517
Variant Present in the following documents:
  • Main text
  • srep29088.pdf
View BVdb publication page