Varaico: Literature-Extracted Genetic Variants

Gene:SNRNP200
Variant:p.I263F
Back to variants list

SNRNP200

NM_014014.5:p.I263F

Associated Papers

Generation of an induced pluripotent stem cell line BIOi004-A from a patient with autosomal dominant retinitis pigmentosa.

Zhang X et al.

Stem Cell Research, 2025

Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.

Wang J et al.

Acta Ophthalmologica, 2022

Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.

Xiao T et al.

Frontiers in Cell and Developmental Biology, 2020

33598457 (PubMed )
Supplement: Data_Sheet_1.XLSX › sheet_1

Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.

Gerth-Kahlert C et al.

Investigative Ophthalmology & Visual Science, 2019

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

Wang J et al.

Investigative Ophthalmology & Visual Science, 2014

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."