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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEP131

Variant:p.R44C

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CEP131

NM_014984.4:p.R44C

hg38:chr17:81219927 G>A

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 › HPK8_het

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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."