Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.L64F
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RP1L1

NM_178857.6:p.L64F

Associated Papers

Whole genome sequencing of 10 families with optic disc drusen.

Steensberg AH et al.

Ophthalmic Genetics, 2025

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.

Mc Clinton B et al.

Genes, 2023

36672932 (PubMed )
Supplement: genes-14-00191-s001.zip › genes-2120704-supplementary.pdf

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Panneman DM et al.

Frontiers in Cell and Developmental Biology, 2023

36819107 (PubMed )
Supplement: Table9.xlsx › Blad1

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

Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Diñeiro M et al.

Acta Ophthalmologica, 2020

32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12

Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome.

Sun LW et al.

Investigative Ophthalmology & Visual Science, 2016

27145477 (PubMed )
Supplement: i1552-5783-57-6-2428-s01.pdf
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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."