Varaico: Literature-Extracted Genetic Variants

Gene:PROKR2
Variant:p.V158I
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PROKR2

NM_144773.4:p.V158I

Associated Papers

Advances in monogenic female infertility.

Gu H et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism.

Wang X et al.

Human Molecular Genetics, 2023

Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.

Martinez-Mayer J et al.

Frontiers in Endocrinology, 2023

Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.

Wang Y et al.

Frontiers in Endocrinology, 2022

High-Density Lipoprotein Function Is Reduced in Patients Affected by Genetic or Idiopathic Hypogonadism.

Adorni MP et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways.

Libri DV et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.

Sarfati J et al.

European Journal of Endocrinology, 2013

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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."