Global Variome shared LOVD

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Phenotype #0000186525 Individual ID 00246679 Associated disease CSNB Phenotype details see paper; ... Diagnosis/Initial severe combined immunodeficiency Inheritance Familial, autosomal recessive Diagnosis/Definite CSNB-2B 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 2019-07-15 22:36:09 +02:00 (CEST) Date last edited N/A

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