Varaico: Literature-Extracted Genetic Variants

Gene:PUF60
Variant:p.Y115C
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PUF60

NM_014281.5:p.Y115C

Associated Papers

Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.

da Rocha LA et al.

Clinical Genetics, 2021

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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."