Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000321033 Individual ID 00430224 Associated disease - Phenotype details Male homozygous proband and homozygous sisters presenting with a prolonged aPTT, with an absence of HK expression Diagnosis/Initial - Inheritance Familial Diagnosis/Definite 67y Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Christian Drouet Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Christian Drouet Date created 2023-01-15 14:45:43 +01:00 (CET) Date last edited 2023-01-17 12:29:13 +01:00 (CET)

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