F8 c.2946T>G ;(p.N982K)

Variant ID: X-154159119-A-C

NM_000132.3(F8):c.2946T>G;(p.N982K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.

Plos One
Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K
Publication Date: 2014

Variant appearance in text: FVIII: Asn982Lys
PubMed Link: 24845853
Variant Present in the following documents:
  • Main text
  • pone.0097337.pdf
View BVdb publication page