Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.L1172I
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RP1L1

NM_178857.6:p.L1172I

Associated Papers

Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.

Wąsowska A et al.

Genes, 2023

37761846 (PubMed )
Supplement: genes-14-01707-s001.zip › genes-2482546-supplementary › Supplementary_Table_S1.xlsx › Rare_variants

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.

Song F et al.

Genes, 2021

Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders.

Secolin R et al.

Frontiers in Genetics, 2021

33841501 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Data_2

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."