Varaico: Literature-Extracted Genetic Variants

Gene:PCARE
Variant:p.C599R
Back to variants list

PCARE

NM_001029883.3:p.C599R

Associated Papers

Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort.

López-Rodríguez VR et al.

Journal of Ophthalmology, 2024

Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.

Zufiaurre-Seijo M et al.

International Journal of Molecular Sciences, 2023

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-s3.xls › NovelVar

Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.

González-del Pozo M et al.

Plos One, 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."