Varaico: Literature-Extracted Genetic Variants

Gene:CERKL
Variant:p.K189_V190Fs
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CERKL

NM_201548.5:p.K189_V190Fs

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

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.

Shah M 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."