Global Variome shared LOVD

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Phenotype #0000187508 Individual ID 00248538 Associated disease MLD Phenotype details see paper; ... Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Onset - Age/Diagnosis - Phenotype/Onset - Protein 9.1 and 13 nmol/h/mg Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-07-26 10:32:32 +02:00 (CEST) Date last edited 2019-07-27 12:32:50 +02:00 (CEST)

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