Global Variome shared LOVD

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Phenotype #0000329989 Individual ID 00440091 Associated disease GD1 Phenotype details see paper; ..., 5y-deceased (pulmonary complication); severe visceral involvement Diagnosis/Initial Gaucher disease Inheritance Familial, autosomal recessive Diagnosis/Definite GD1 Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-10-27 16:20:40 +02:00 (CEST) Date last edited N/A

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