Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.K534N
Back to variants list

CRB1

NM_201253.3:p.K534N

Associated Papers

Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.

Talib M et al.

Acta Ophthalmologica, 2021

33528094 (PubMed )
Supplement: AOS-99-e402-s003.pdf

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

van Huet RA et al.

Molecular Vision, 2015

Next-generation genetic testing for retinitis pigmentosa.

Neveling K et al.

Human Mutation, 2012

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."