Global Variome shared LOVD

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Phenotype #0000185401 Individual ID 00245432 Associated disease HAE1;HAE2 Phenotype details probands presenting with HAE of the intermediate type: low antigenic C1 Inhibitor and detectable variant product p.(Val473Gly) 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 2019-07-04 18:47:37 +02:00 (CEST) Date last edited 2019-10-16 12:59:24 +02:00 (CEST)

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