Varaico: Literature-Extracted Genetic Variants

Gene:RP1L1
Variant:p.W960C
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RP1L1

NM_178857.6:p.W960C

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

Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy.

Liu X et al.

Bmc Ophthalmology, 2024

Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.

Hitti-Malin RJ et al.

Human Mutation, 2022

[Clinical features of Best vitelliform macular dystrophy].

Ouyang YL et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2007

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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."