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.




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