Global Variome shared LOVD

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Phenotype #0000235277 Individual ID 00309960 Associated disease PBD Phenotype details see paper; ... Diagnosis/Initial infantile Refsum disease Inheritance Familial, autosomal recessive 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 2020-09-07 15:20:31 +02:00 (CEST) Date last edited 2020-09-07 15:54:34 +02:00 (CEST)

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