Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.K1138fs
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RP1L1

NM_178857.6:p.K1138fs

Associated Papers

Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.

Antropoli A et al.

Investigative Ophthalmology & Visual Science, 2025

Research progress of RP1L1 gene in disease.

Liu J et al.

Gene, 2024

An extended phenotype of RP1L1 maculopathy - case report.

Manayath GJ et al.

Ophthalmic Genetics, 2022

34965838 (PubMed )
Supplement: supplement_1.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."