Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.Q130*
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C2

NM_000063.6:p.Q130*

Associated Papers

Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.

Shuch B et al.

The Journal of Urology, 2013

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.

Zschocke J

Journal of Inherited Metabolic Disease, 2012

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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."