Varaico: Literature-Extracted Genetic Variants

Gene:CKAP4
Variant:p.S195R
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CKAP4

NM_006825.4:p.S195R

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK14_het

Cyclin F, Neurodegeneration, and the Pathogenesis of ALS/FTD.

Rayner SL et al.

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2024

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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."