Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.S1210P
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RP1L1

NM_178857.6:p.S1210P

Associated Papers

Research progress of RP1L1 gene in disease.

Liu J et al.

Gene, 2024

RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration.

Daniute G et al.

Ophthalmic Genetics, 2022

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

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.

Zobor D et al.

Investigative Ophthalmology & Visual Science, 2018

Novel RP1L1 Variants and Genotype-Photoreceptor Microstructural Phenotype Associations in Cohort of Japanese Patients With Occult Macular Dystrophy.

Fujinami K et al.

Investigative Ophthalmology & Visual Science, 2016

Cone dystrophy in patient with homozygous RP1L1 mutation.

Kikuchi S et al.

Biomed Research International, 2015

Abstracts of the 52nd ISCEV International Symposium, July 10-15, 2014, Boston, MA.

Unknown Author

Documenta Ophthalmologica. Advances in Ophthalmology, 2014

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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."