Varaico: Literature-Extracted Genetic Variants

Gene:CERKL
Variant:p.G80Splc
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CERKL

NM_201548.5:p.G80Splc

Associated Papers

CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.

Daich Varela M et al.

Ophthalmology. Retina, 2023

37331655 (PubMed )
Supplement: mmc1.pdf

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Sheck LHN et al.

Molecular Genetics & Genomic Medicine, 2021

33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new

A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype.

Domènech EB et al.

Investigative Ophthalmology & Visual Science, 2020

32658961 (PubMed )
Supplement: iovs-61-8-14_s001.pdf
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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."