RYR1 c.6584C>T ;(p.P2195L)

Variant ID: 19-38986890-C-T

NM_000540.2(RYR1):c.6584C>T;(p.P2195L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Acta Neuropathologica Communications
Savarese, Marco M; Di Fruscio, Giuseppina G; Mutarelli, Margherita M; Torella, Annalaura A; Magri, Francesca F; Santorelli, Filippo Maria FM; Comi, Giacomo Pietro GP; Bruno, Claudio C; Nigro, Vincenzo V
Publication Date: 2014-09-11

Variant appearance in text: RYR1: P2195L
PubMed Link: 25214167
Variant Present in the following documents:
  • Main text
  • 40478_2014_Article_9100.pdf
View BVdb publication page