F8 c.4942C>T ;(p.Q1648*)

Variant ID: X-154157123-G-A

NM_000132.3(F8):c.4942C>T;(p.Q1648*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

Bmc Medical Genetics
Lin, Shin-Yu SY; Su, Yi-Ning YN; Hung, Chia-Cheng CC; Tsay, Woei W; Chiou, Shyh-Shin SS; Chang, Chieh-Ting CT; Ho, Hong-Nerng HN; Lee, Chien-Nan CN
Publication Date: 2008-06-20

Variant appearance in text: FVIII: 4942C>T
PubMed Link: 18565236
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-53.pdf
View BVdb publication page