SMN1 c.196C>T ;(p.P66S)

Variant ID: 5-70237258-C-T

NM_000344.3(SMN1):c.196C>T;(p.P66S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.

International Journal Of Molecular Sciences
Bernard, Emilien E; Pegat, Antoine A; Svahn, Juliette J; Bouhour, Françoise F; Leblanc, Pascal P; Millecamps, Stéphanie S; Thobois, Stéphane S; Guissart, Claire C; Lumbroso, Serge S; Mouzat, Kevin K
Publication Date: 2020-09-16

Variant appearance in text: SMA: P66S
PubMed Link: 32948071
Variant Present in the following documents:
  • ijms-21-06807.pdf
View BVdb publication page