Global Variome shared LOVD

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Phenotype #0000185613 Individual ID 00245718 Associated disease HAE1;HAE2 Phenotype details Probands from French pedigrees have been identified with a HAE of the intermediate type, where low antigenic C1-INH is associated with a co-expression of both variant p.(Arg494*) and wt alleles. Diagnosis/Initial HAE-I 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 2019-07-05 22:25:38 +02:00 (CEST) Date last edited 2019-10-16 19:44:04 +02:00 (CEST)

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