Global Variome shared LOVD

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Phenotype #0000299837 Individual ID 00407690 Associated disease - Phenotype details - Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Leber congenital amaurosis Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein luciferase reporter analysis demonstrates significantly decreased transactivation by transfected variants Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-07 18:49:55 +02:00 (CEST) Date last edited N/A

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