Varaico: Literature-Extracted Genetic Variants

Gene:PCARE
Variant:p.P954S
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PCARE

NM_001029883.3:p.P954S

Associated Papers

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

Zufiaurre-Seijo M et al.

International Journal of Molecular Sciences, 2023

37445847 (PubMed )
Supplement: ijms-24-10670-s001.zip › ijms-2443350-supplementary.pdf

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."