Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.D2021delFs
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RP1L1

NM_178857.6:p.D2021delFs

Associated Papers

Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.

Ng TK et al.

Eye (london, England), 2022

Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Ma DJ et al.

Bmc Medical Genomics, 2021

33691693 (PubMed )
Supplement: 12920_2021_874_MOESM2_ESM.xlsx › Sheet1

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

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

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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."