Global Variome shared LOVD

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Phenotype #0000025032 Individual ID 00029011 Associated disease STRMK Phenotype details see paper; congenital miosis, bleeding diathesis, thrombocytopenia, proximal muscle weakness Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - 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 2015-01-18 11:06:22 +01:00 (CET) Date last edited N/A

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