Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.M500fs
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RP1

NM_006269.2:p.M500fs

Associated Papers

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

Heutinck PAT et al.

Scientific Reports, 2025

A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa.

Nishiguchi KM et al.

Japanese Journal of Ophthalmology, 2020

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.

Verbakel SK et al.

Investigative Ophthalmology & Visual Science, 2019

Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.

Kurata K et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2018

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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."