Varaico: Literature-Extracted Genetic Variants

Gene:CDKN1C
Variant:p.P161fs
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CDKN1C

NM_001122630.2:p.P161fs

Associated Papers

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3.

Macedo DB et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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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."