Varaico: Literature-Extracted Genetic Variants

Gene:CERKL
Variant:p.M279delFs
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CERKL

NM_001030311.3:p.M279delFs

Associated Papers

Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.

Zhang L et al.

Investigative Ophthalmology & Visual Science, 2025

41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1

Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.

Sun HN et al.

Molecular Genetics & Genomic Medicine, 2025

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.

Downes SM et al.

Genes, 2020

High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse.

Garanto A et al.

Investigative Ophthalmology & Visual Science, 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."