Varaico: Literature-Extracted Genetic Variants

Gene:PROKR2
Variant:p.E231K
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PROKR2

NM_144773.4:p.E231K

Associated Papers

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

Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.

Vishnopolska SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

PROKR2 mutations in idiopathic hypogonadotropic hypogonadism: selective disruption of the binding to a Gα-protein leads to biased signaling.

Zhao Y et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

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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."