Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.Y501*
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RPE65

NM_000329.3:p.Y501*

Associated Papers

Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.

Shi J et al.

Journal of Clinical Medicine, 2021

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.

Gao FJ et al.

Orphanet Journal of Rare Diseases, 2021

RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.

Li S et al.

Acta Ophthalmologica, 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."