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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDK13

Variant:p.F745_I747insFs

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CDK13

NM_003718.5:p.F745_I747insFs

hg38:chr7:40001910 C>CTTTCCAAT

Associated Papers

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

Desir J et al.

Journal of Medical Genetics, 2007

17220209 (PubMed )

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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."