Varaico: Literature-Extracted Genetic Variants

Gene:CERK
Variant:p.F140delFs
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CERK

NM_022766.6:p.F140delFs

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

A founder mutation in CERKL is a major cause of retinal dystrophy in Finland.

Avela K et al.

Acta Ophthalmologica, 2018

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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."