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FBN1 c.1775_1776delinsAG ;(p.G592E)
Variant ID: 15-48800840-GC-CT
NM_000138.4(
FBN1
):c.1775_1776delinsAG;(p.G592E)
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: G592E
PubMed Link:
33262486
Variant Present in the following documents:
Main text
View BVdb publication page