Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.D2021fs
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RP1L1

NM_178857.6:p.D2021fs

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

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

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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."