Varaico: Literature-Extracted Genetic Variants

Gene:OCLN
Variant:p.P346Splc
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OCLN

NM_001205254.2:p.P346Splc

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Saleh S et al.

Clinical Genetics, 2021

Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.

Elmas M et al.

Molecular Syndromology, 2020

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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."