Global Variome shared LOVD

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Phenotype #0000305432 Individual ID 00413457 Associated disease DMD Phenotype details see paper; low blood GAA activity (9.02 nmol/1 h/mg) Diagnosis/Initial Pompe disease Inheritance Familial, autosomal recessive Diagnosis/Definite GSD2 Age/Examination 00y02m (2 months) Age/Onset - Phenotype/Onset - Age/Diagnosis - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-07-18 21:03:30 +02:00 (CEST) Date last edited 2022-07-18 21:15:35 +02:00 (CEST)

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