Varaico: Literature-Extracted Genetic Variants

Gene:PCARE
Variant:p.R613*
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PCARE

NM_001029883.3:p.R613*

Associated Papers

PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History.

Bianco L et al.

Investigative Ophthalmology & Visual Science, 2025

40261664 (PubMed )
Supplement: iovs-66-4-61_s002.pdf

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

Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan.

Chen ZJ et al.

Clinical & Experimental Ophthalmology, 2020

C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.

Gerth-Kahlert C et al.

Investigative Ophthalmology & Visual Science, 2017

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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."