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FBN1 c.100G>T ;(p.V34L)
Variant ID: 15-48936867-C-A
NM_000138.4(
FBN1
):c.100G>T;(p.V34L)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
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dbSNP
Publications:
Mechanisms of Lower Extremity Vein Dysfunction in Chronic Venous Disease and Implications in Management of Varicose Veins.
Vessel Plus
Raffetto, Joseph D JD; Khalil, Raouf A RA
Publication Date: 2021
Variant appearance in text: FBN1: V34L
PubMed Link:
34250453
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: V34L
PubMed Link:
33262486
Variant Present in the following documents:
Main text
View BVdb publication page
Genetics of ischaemic stroke in young adults.
Bba Clinical
Terni, Eva E; Giannini, Nicola N; Brondi, Marco M; Montano, Vincenzo V; Bonuccelli, Ubaldo U; Mancuso, Michelangelo M
Publication Date: 2015-06
Variant appearance in text: FBN1: Val34Leu
PubMed Link:
26672892
Variant Present in the following documents:
Main text
View BVdb publication page
Three periods of one and a half decade of ischemic stroke susceptibility gene research: lessons we have learned.
Genome Medicine
Maasz, Anita A; Melegh, Bela B
Publication Date: 2010-09-13
Variant appearance in text: FBN1: Val34Leu
PubMed Link:
20831840
Variant Present in the following documents:
Main text
gm185.pdf
View BVdb publication page