Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.N1751delFs
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RP1

NM_006269.2:p.N1751delFs

Associated Papers

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

38317096 (PubMed )
Supplement: 12886_2024_3319_MOESM2_ESM.xlsx › Supplementary_Table_S2

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

The molecular basis of retinal dystrophies in pakistan.

Khan MI et al.

Genes, 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

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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."