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SMN1 c.221C>T ;(p.P74L)
Variant ID: 5-70237283-C-T
NM_000344.3(
SMN1
):c.221C>T;(p.P74L)
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:
Neurofilament Phosphorylation during Development and Disease: Which Came First, the Phosphorylation or the Accumulation?
Journal Of Amino Acids
Dale, Jeffrey M JM; Garcia, Michael L ML
Publication Date: 2012
Variant appearance in text: SMA: P74L
PubMed Link:
22570767
Variant Present in the following documents:
Main text
View BVdb publication page