Varaico: Literature-Extracted Genetic Variants

Gene:CERKL
Variant:p.C333*
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CERKL

NM_001030311.3:p.C333*

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

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.

Patel N et al.

Clinical Genetics, 2018

Rod-Cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations.

Khan AO et al.

Ophthalmic Genetics, 2015

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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."