Global Variome shared LOVD

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Phenotype #0000302130 Individual ID 00410021 Associated disease - Phenotype details night blindness since childhood, visual field loss and reduction of visual acuity, fundus: bone-spicules pigmentation in the mid-peripheral retina Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset night blindness Protein S50del mutation accelerates the transcriptional activation ability of NRL and decreases its phosphorylation level Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-17 20:49:15 +02:00 (CEST) Date last edited N/A

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