Varaico: Literature-Extracted Genetic Variants

Gene:PCARE
Variant:p.C688Y
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PCARE

NM_001029883.3:p.C688Y

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

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5

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."