ALPK1 c.1741_1742delinsGC ;(p.S581A)

Variant ID: 4-113352444-AG-GC

NM_025144.3(ALPK1):c.1741_1742delinsGC;(p.S581A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Hadjali-Saichi, Soraya S; de Mazancourt, Philippe P; Tapon-Bretaudière, Jacqueline J; Mirault, Tristan T; Guenounou, Kahina K; Frigaa, Issam I; Fischer, Anne-Marie AM; Chafa, Ouerdia O; Helley, Dominique D
Publication Date: 2022-09

Variant appearance in text: Lak: Ser581Ala
PubMed Link: 35488806
Variant Present in the following documents:
  • Main text
  • HAE-28-822.pdf
View BVdb publication page