Varaico: Literature-Extracted Genetic Variants

Gene:LCA5
Variant:p.R35*
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LCA5

NM_001122769.3:p.R35*

Associated Papers

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.

Demir Ş et al.

Clinical Genetics, 2025

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Bouzidi A et al.

Orphanet Journal of Rare Diseases, 2022

35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM2_ESM.xlsx › Feuil_1

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Gerber S et al.

Human Mutation, 2007

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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."