F8 c.5275G>A ;(p.D1759N)

Variant ID: X-154134793-C-T

NM_000132.3(F8):c.5275G>A;(p.D1759N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII.

The Biochemical Journal
Wei, Wei W; Misra, Saurav S; Cannon, Matthew V MV; Yang, Renchi R; Zhu, Xiaofan X; Gilmore, Reid R; Zhu, Min M; Zhang, Bin B
Publication Date: 2018-03-06

Variant appearance in text: FVIII: 5275G>A
PubMed Link: 29444815
Variant Present in the following documents:
  • Main text
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