Varaico: Literature-Extracted Genetic Variants

Gene:PCARE
Variant:p.P776insFs
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PCARE

NM_001029883.3:p.P776insFs

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

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

Zufiaurre-Seijo M et al.

International Journal of Molecular Sciences, 2023

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

Audo I et al.

Human Mutation, 2011

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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."