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SMN1 c.397_398delinsCA ;(p.R133Q)
Variant ID: 5-70238308-AG-CA
NM_000344.3(
SMN1
):c.397_398delinsCA;(p.R133Q)
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:
NeoR, a near-infrared absorbing rhodopsin.
Nature Communications
Broser, Matthias M; Spreen, Anika A; Konold, Patrick E PE; Peter, Enrico E; Adam, Suliman S; Borin, Veniamin V; Schapiro, Igor I; Seifert, Reinhard R; Kennis, John T M JTM; Bernal Sierra, Yinth Andrea YA; Hegemann, Peter P
Publication Date: 2020-11-10
Variant appearance in text: SMA: R133Q
PubMed Link:
33173168
Variant Present in the following documents:
41467_2020_19375_MOESM1_ESM.pdf
View BVdb publication page