Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.K1370E
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RP1

NM_006269.2:p.K1370E

Associated Papers

Screening of genes interacting with high myopia and neuropsychiatric disorders.

Liu Y et al.

Scientific Reports, 2023

37884635 (PubMed )
Supplement: 41598_2023_45463_MOESM1_ESM.zip › Supplementary-PDF › Supplementary_Table_5.pdf

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.

Kabir F et al.

Molecular Vision, 2016

A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration.

Song D et al.

The American Journal of Pathology, 2014

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

Audo I et al.

Human Mutation, 2012

Differential pattern of RP1 mutations in retinitis pigmentosa.

Zhang X et al.

Molecular Vision, 2010

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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."