Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0586
Variant:p.R32insFs
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KIAA0586

NM_001244189.2:p.R32insFs

Associated Papers

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review.

Cocciadiferro D et al.

Medicine, 2020

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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."