Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.P665R
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RP1L1

NM_178857.6:p.P665R

Associated Papers

Evolution of vitelliform maculopathy in a pediatric patient with a homozygous RP1L1 variant.

Amato A et al.

American Journal of Ophthalmology Case Reports, 2025

An extended phenotype of RP1L1 maculopathy - case report.

Manayath GJ et al.

Ophthalmic Genetics, 2022

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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."