SMN1 c.436T>C ;(p.C146R)

Variant ID: 5-70238347-T-C

NM_000344.3(SMN1):c.436T>C;(p.C146R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Sensory Involvement in Amyotrophic Lateral Sclerosis.

International Journal Of Molecular Sciences
Rubio, Miguel A MA; Herrando-Grabulosa, Mireia M; Navarro, Xavier X
Publication Date: 2022-12-08

Variant appearance in text: SMA: C146R
PubMed Link: 36555161
Variant Present in the following documents:
  • Main text
  • ijms-23-15521.pdf
View BVdb publication page



Protein network analysis to prioritize key genes in amyotrophic lateral sclerosis.

Ibro Neuroscience Reports
Kumar, Rupesh R; Haider, Shazia S
Publication Date: 2022-06

Variant appearance in text: SMA: C146R
PubMed Link: 34918006
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: Cys146Arg
PubMed Link: 32948071
Variant Present in the following documents:
  • ijms-21-06807.pdf
View BVdb publication page