Global Variome shared LOVD

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Phenotype #0000302461 Individual ID 00410357 Associated disease COXPD Phenotype details see paper; ... Diagnosis/Initial combined oxidative phosphorylation deficiency Inheritance Familial, autosomal recessive Diagnosis/Definite COXPD23 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 2022-05-25 09:59:49 +02:00 (CEST) Date last edited N/A

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