RYR1 c.9676G>C ;(p.E3226Q)

Variant ID: 19-39006848-G-C

NM_000540.2(RYR1):c.9676G>C;(p.E3226Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.

Anesthesiology
Fiszer, Dorota D; Shaw, Marie-Anne MA; Fisher, Nickla A NA; Carr, Ian M IM; Gupta, Pawan K PK; Watkins, Elizabeth J EJ; Roiz de Sa, Daniel D; Kim, Jerry H JH; Hopkins, Philip M PM
Publication Date: 2015-05

Variant appearance in text: MHS: 9676G>C
PubMed Link: 25658027
Variant Present in the following documents:
  • Main text
View BVdb publication page