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FBN1 c.3208+2T>A
Variant ID: 15-48780563-A-T
NM_000138.4(
FBN1
):c.3208+2T>A
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:
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Arnaud, Pauline P; Morel, Hélène H; Milleron, Olivier O; Gouya, Laurent L; Francannet, Christine C; Da Costa, Antoine A; Le Goff, Carine C; Jondeau, Guillaume G; Boileau, Catherine C; Hanna, Nadine N
Publication Date: 2021-05
Variant appearance in text: FBN1: 3208+2T>A
PubMed Link:
33495528
Variant Present in the following documents:
Main text
41436_2020_Article_1078.pdf
View BVdb publication page