Global Variome shared LOVD

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Phenotype #0000115941 Individual ID 00143193 Associated disease BCS Diagnosis/Initial brittle cornea syndrome Diagnosis/Definite BCS2 Phenotype details see paper, ..., blue sclerae, keratoconus Inheritance Familial, autosomal recessive Age/Examination 02y (2 years) 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 2017-11-29 09:14:15 +01:00 (CET) Date last edited 2024-02-14 14:06:15 +01:00 (CET)

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