Global Variome shared LOVD

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Phenotype #0000279907 Individual ID 00386104 Associated disease HAE3 Phenotype details Female probands presenting with oestrogen-dependent and oestrogen-sensitive HAE-FXII phenotype. 72% of male carriers of the c.983C>A variant have been found asymptomatic. Diagnosis/Initial - Inheritance Familial 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 2021-10-20 11:09:43 +02:00 (CEST) Date last edited 2021-10-20 14:30:41 +02:00 (CEST)

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