F8 c.5508_5521del ;(p.W1836*)

Variant ID: X-154133151-TGATGTTGCACTTTC-T

NM_000132.3(F8):c.5508_5521del;(p.W1836*)

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: FVIII: 5508_5521del
PubMed Link: 18184865
Variant Present in the following documents:
  • Main text
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