Varaico: Literature-Extracted Genetic Variants

Gene:PCARE
Variant:p.G570fs
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PCARE

NM_001029883.3:p.G570fs

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

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.

Kiel C et al.

Scientific Reports, 2024

39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › unsolved_patients

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

Zufiaurre-Seijo M et al.

International Journal of Molecular Sciences, 2023

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.

Song F et al.

Genes, 2021

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Tiwari A et al.

Scientific Reports, 2016

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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."