Varaico: Literature-Extracted Genetic Variants

Gene:PROK2
Variant:p.I55fs
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PROK2

NM_001126128.2:p.I55fs

Associated Papers

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.

Cassatella D et al.

European Journal of Endocrinology, 2018

29419413 (PubMed )
Supplement: eje-178-377-t002.pdf

A variant by any name: quantifying annotation discordance across tools and clinical databases.

Yen JL et al.

Genome Medicine, 2017

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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."