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FBN1 c.577C>T ;(p.Q193*)
Variant ID: 15-48829967-G-A
NM_000138.4(
FBN1
):c.577C>T;(p.Q193*)
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:
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.
European Journal Of Human Genetics : Ejhg
Publication Date: 2020-12
Variant appearance in text: FBN1: 577C>T; Gln193*
PubMed Link:
33262486
Variant Present in the following documents:
Main text
View BVdb publication page