Global Variome shared LOVD

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Phenotype #0000334396 Individual ID 00445142 Associated disease BTHLM Diagnosis/Initial Bethlem myopathy Diagnosis/Definite BTHLM1 Phenotype details see paper; ... Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Victor Morel Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-01-04 14:47:30 +01:00 (CET) Date last edited N/A

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