Global Variome shared LOVD

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

Phenotype #0000155250 Individual ID 00207472 Associated disease GA1 Inheritance Familial, autosomal recessive Age/Onset - Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis 00y00m07d Phenotype/Onset - Phenotype details - Protein - Biochem Low excretor Enzyme/Activity Residual activity: 8 % control (fibroblasts) Owner name Isabelle Rinke Database submission license No license selected Created by Isabelle Rinke Date created 2018-11-23 12:04:48 +01:00 (CET) Date last edited N/A

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