Global Variome shared LOVD

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Phenotype #0000343424 Individual ID 00454814 Associated disease ? Diagnosis/Initial cblE type of homocystinuria Diagnosis/Definite HMAE Phenotype details see paper; ... Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-09-27 18:39:11 +02:00 (CEST) Date last edited N/A

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