RYR1 c.4567A>C ;(p.T1523P)

Variant ID: 19-38969187-A-C

NM_000540.2(RYR1):c.4567A>C;(p.T1523P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.

Bmc Musculoskeletal Disorders
Kariminejad, Ariana A; Ghaderi-Sohi, Siavash S; Hossein-Nejad Nedai, Hamid H; Varasteh, Vahid V; Moslemi, Ali-Reza AR; Tajsharghi, Homa H
Publication Date: 2016-03-01

Variant appearance in text: RYR1: Thr1523Pro
PubMed Link: 26932181
Variant Present in the following documents:
  • Main text
  • 12891_2016_Article_947.pdf
View BVdb publication page