Varaico: Literature-Extracted Genetic Variants

Gene:CERKL
Variant:p.N250_R257Fs
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CERKL

NM_201548.5:p.N250_R257Fs

Associated Papers

A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.

Wolock CJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."