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SMN1 c.443T>G ;(p.V148G)
Variant ID: 5-70238354-T-G
NM_000344.3(
SMN1
):c.443T>G;(p.V148G)
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:
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: V148G
PubMed Link:
34918006
Variant Present in the following documents:
main.pdf
View BVdb publication page