RYR1 c.1655G>A ;(p.R552Q)

Variant ID: 19-38946169-G-A

NM_000540.2(RYR1):c.1655G>A;(p.R552Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

Orphanet Journal Of Rare Diseases
Klingler, Werner W; Heiderich, Sebastian S; Girard, Thierry T; Gravino, Elvira E; Heffron, James Ja JJ; Johannsen, Stephan S; Jurkat-Rott, Karin K; Rüffert, Henrik H; Schuster, Frank F; Snoeck, Marc M; Sorrentino, Vincenzo V; Tegazzin, Vincenzo V; Lehmann-Horn, Frank F
Publication Date: 2014-01-16

Variant appearance in text: MHS: 1655G>A
PubMed Link: 24433488
Variant Present in the following documents:
  • Main text
  • 1750-1172-9-8.pdf
View BVdb publication page