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SMN1 c.835-2A>C
Variant ID: 5-70247766-A-C
NM_000344.3(
SMN1
):c.835-2A>C
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:
High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.
Rna Biology
Souček, Přemysl P; Réblová, Kamila K; Kramárek, Michal M; Radová, Lenka L; Grymová, Tereza T; Hujová, Pavla P; Kováčová, Tatiana T; Lexa, Matej M; Grodecká, Lucie L; Freiberger, Tomáš T
Publication Date: 2019-10
Variant appearance in text: rs141760116
PubMed Link:
31213135
Variant Present in the following documents:
Main text
View BVdb publication page