Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.P110L
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RP1L1

NM_178857.6:p.P110L

Associated Papers

Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.

Antropoli A et al.

Investigative Ophthalmology & Visual Science, 2025

Clinical and Genetic Characteristics of Chinese Patients with Occult Macular Dystrophy.

Wang DD et al.

Investigative Ophthalmology & Visual Science, 2020

32176261 (PubMed )
Supplement: iovs-61-3-10_s002.xlsx › Sheet_1

Clinical and Genetic Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake Disease): East Asia Occult Macular Dystrophy Studies Report Number 1.

Fujinami K et al.

Ophthalmology, 2019

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

Davidson AE et al.

Human Mutation, 2013

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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."