Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.V157delFs
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RP1

NM_006269.2:p.V157delFs

Associated Papers

Retinitis pigmentosa-1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation.

Neissi M et al.

Clinical Case Reports, 2024

Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

Bouzidi A et al.

Orphanet Journal of Rare Diseases, 2022

35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM2_ESM.xlsx › Feuil_1

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

Retinitis Pigmentosa Due to Rp1 Biallelic Variants.

Silva RS et al.

Scientific Reports, 2020

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.

Chassine T et al.

The British Journal of Ophthalmology, 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."