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FBN1 c.4628A>C ;(p.D1543A)
Variant ID: 15-48760254-T-G
NM_000138.4(
FBN1
):c.4628A>C;(p.D1543A)
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:
Early fibrillin-1 assembly monitored through a modifiable recombinant cell approach.
Biomacromolecules
Hubmacher, Dirk D; Bergeron, Eric E; Fagotto-Kaufmann, Christine C; Sakai, Lynn Y LY; Reinhardt, Dieter P DP
Publication Date: 2014-04-14
Variant appearance in text: FBN1: 4628A>C
PubMed Link:
24559401
Variant Present in the following documents:
Main text
View BVdb publication page