RYR1 c.728T>C ;(p.L243P)

Variant ID: 19-38937336-T-C

NM_000540.2(RYR1):c.728T>C;(p.L243P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.

Journal Of Neuromuscular Diseases
Werlauff, U U; Petri, H H; Witting, N N; Vissing, J J
Publication Date: 2015-06-04

Variant appearance in text: RYR1: 728T>C
PubMed Link: 27858727
Variant Present in the following documents:
  • Main text
  • jnd-2-2-jnd140040.pdf
View BVdb publication page