Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.S1144F
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RP1L1

NM_178857.6:p.S1144F

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.

Zaslavsky K et al.

Investigative Ophthalmology & Visual Science, 2025

41342616 (PubMed )
Supplement: iovs-66-15-19_s002.xlsx › SuppTable5

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

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