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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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