SMN1 c.786T>C ;(p.S262=)

Variant ID: 5-70241955-T-C

NM_000344.3(SMN1):c.786T>C;(p.S262=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular determinants of survival motor neuron (SMN) protein cleavage by the calcium-activated protease, calpain.

Plos One
Fuentes, Jennifer L JL; Strayer, Molly S MS; Matera, A Gregory AG
Publication Date: 2010-12-30

Variant appearance in text: SMA: S262S
PubMed Link: 21209906
Variant Present in the following documents:
  • Main text
  • pone.0015769.pdf
View BVdb publication page