VWF c.1112T>C ;(p.I371T)

Variant ID: 12-6180507-A-G

NM_000552.3(VWF):c.1112T>C;(p.I371T)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.

Blood
Venceslá, Adoración A; Corral-Rodríguez, María Angeles MA; Baena, Manel M; Cornet, Mónica M; Domènech, Montserrat M; Baiget, Montserrat M; Fuentes-Prior, Pablo P; Tizzano, Eduardo F EF
Publication Date: 2008-04-01

Variant appearance in text: VWF: Ile371Thr
PubMed Link: 18184865
Variant Present in the following documents:
  • Main text
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