Global Variome shared LOVD

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Phenotype #0000082876 Individual ID 00104986 Associated disease ARCI Phenotype details see paper; ..., abnormal desquamation whole body, skin/eye/heart/skeletal anomalies; ages 37y, 22y Diagnosis/Initial - 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 2017-06-14 13:24:34 +02:00 (CEST) Date last edited N/A

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