Global Variome shared LOVD

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Phenotype #0000053528 Individual ID 00017707 Associated disease JBTS Phenotype details see paper; ... Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2016-06-19 21:10:52 +02:00 (CEST) Date last edited N/A

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