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FBN1 c.1824A>C ;(p.G608=)
Variant ID: 15-48800792-T-G
NM_000138.4(
FBN1
):c.1824A>C;(p.G608=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Gene Therapy for Cardiovascular Disease: Basic Research and Clinical Prospects.
Frontiers In Cardiovascular Medicine
Cao, Genmao G; Xuan, Xuezhen X; Zhang, Ruijing R; Hu, Jie J; Dong, Honglin H
Publication Date: 2021
Variant appearance in text: FBN1: G608G
PubMed Link:
34805315
Variant Present in the following documents:
Main text
View BVdb publication page
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: G608G
PubMed Link:
33262486
Variant Present in the following documents:
Main text
View BVdb publication page