Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.C114Y
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RP2

NM_006915.3:p.C114Y

Associated Papers

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Heutinck PAT et al.

Investigative Ophthalmology & Visual Science, 2024

39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.

Georgiou M et al.

American Journal of Ophthalmology, 2024

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

Georgiou M et al.

Ophthalmology, 2023

36423731 (PubMed )
Supplement: mmc6.pdf

A Natural History Study of RP2-Related Retinopathy.

Cheloni R et al.

Journal of Clinical Medicine, 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."