Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.Y485*
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RP1

NM_006269.2:p.Y485*

Associated Papers

Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.

Lee BJH et al.

Ophthalmic Genetics, 2023

Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions.

Wang J et al.

Frontiers in Cell and Developmental Biology, 2021

33681214 (PubMed )
Supplement: Table_4.XLSX › Sheet1

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

Kim MS et al.

Journal of Korean Medical Science, 2019

The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa.

Yoon CK et al.

Bmc Genomics, 2015

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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."