Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.K722Fs
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RP1

NM_006269.2:p.K722Fs

Associated Papers

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

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

Kabir F et al.

Molecular Vision, 2016

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

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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."