Global Variome shared LOVD

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Phenotype #0000257695 Individual ID 00362278 Associated disease DBA Diagnosis/Initial Diamond-Blackfan anemia Diagnosis/Definite DBA5 Phenotype details see paper; ..., bilateral duplicated ureters, bilateral duplicated 11th ribs; unresponsive to steroid therapy Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 00y02m 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 2021-04-20 17:34:33 +02:00 (CEST) Date last edited N/A

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