Global Variome shared LOVD

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Phenotype #0000143835 Individual ID 00183079 Associated disease COXPD Phenotype details see paper; ... Diagnosis/Initial combined OXPHOS deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - 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 2018-10-12 18:56:30 +02:00 (CEST) Date last edited N/A

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