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