Global Variome shared LOVD

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Phenotype #0000185614 Individual ID 00245745 Associated disease HAE1;HAE2 Phenotype details Homozygous proband presenting with a mild HAE type II phenotype, heterozygotes are asymptomatic; c.[-21T>C];[-21T>C] might be a condition responsible for the disease Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - 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 2019-07-06 10:20:58 +02:00 (CEST) Date last edited 2021-08-08 19:29:48 +02:00 (CEST)

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