Varaico: Literature-Extracted Genetic Variants

Gene:RPGRIP1
Variant:p.P822_Y823insFs
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RPGRIP1

NM_020366.4:p.P822_Y823insFs

Associated Papers

Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.

Skorczyk-Werner A et al.

Journal of Applied Genetics, 2023

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA).

Skorczyk-Werner A et al.

Orphanet Journal of Rare Diseases, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."