Varaico: Literature-Extracted Genetic Variants

Gene:CERKL
Variant:p.G300Splc
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CERKL

NM_001030311.3:p.G300Splc

Associated Papers

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

Downes SM et al.

Genes, 2020

CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study.

Sen P et al.

Ophthalmic Genetics, 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."