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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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