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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCNT

Variant:p.S2683insFs

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PCNT

NM_006031.6:p.S2683insFs

hg38:chr21:46430640 A>AG

Associated Papers

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.

Huang-Doran I et al.

Diabetes, 2011

21270239 (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."