Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.V1498_E1499del2
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RP1

NM_006269.2:p.V1498_E1499del2

Associated Papers

Divergent Manifestations in Biallelic Versus Monoallelic Variants of RP1-, BEST1-, and PROM1-Associated Retinal Disorders.

Kong MD et al.

International Journal of Molecular Sciences, 2025

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

Heutinck PAT et al.

Scientific Reports, 2025

A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.

Areblom M et al.

Genes, 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

Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.

Tayebi N et al.

Molecular Vision, 2019

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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."