Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.N1143fs
Back to variants list

RP1

NM_006269.2:p.N1143fs

Associated Papers

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

The genetics of rod-cone dystrophy in Arab countries: a systematic review.

Jaffal L et al.

European Journal of Human Genetics : Ejhg, 2021

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

Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.

Huckfeldt RM et al.

Molecular Vision, 2020

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

Chassine T et al.

The British Journal of Ophthalmology, 2015

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."