Phenotype #0000299837

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
Created by	Anna Tracewska
Date created	2022-04-07 18:49:55 +02:00 (CEST)
Date last edited	N/A

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