Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.E661*
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RP1

NM_006269.2:p.E661*

Associated Papers

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

Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.

Koyanagi Y et al.

Investigative Ophthalmology & Visual Science, 2020

Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy.

Riera M et al.

The British Journal of Ophthalmology, 2020

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

Martin-Merida I et al.

Investigative Ophthalmology & Visual Science, 2018

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.

Van Cauwenbergh C et al.

Plos One, 2017

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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."