Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.K673fs
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RP1

NM_006269.2:p.K673fs

Associated Papers

Exome sequencing identifies novel genetic variants in patients with atypical Non-Syndromic retinitis pigmentosa.

Yesharim L et al.

Molecular Biology Reports, 2025

Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.

Kamenarova K et al.

Molecular Genetics & Genomic Medicine, 2022

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.

El Shamieh S et al.

Biomed Research International, 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."