Varaico: Literature-Extracted Genetic Variants

Gene:PROK2
Variant:p.R117W
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PROK2

NM_001126128.2:p.R117W

Associated Papers

The novel function of miR-3195 for mutant PROK2 (c.223-4C>A) degradation.

Zhou S et al.

Cell Biology International, 2021

Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism.

Méndez JP et al.

Endocrine Research, 2015

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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."