Varaico: Literature-Extracted Genetic Variants

Gene:PROKR2
Variant:p.G234D
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PROKR2

NM_144773.4:p.G234D

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

Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.

Sugisawa C et al.

Endocrine Journal, 2022

Prokineticin-Receptor Network: Mechanisms of Regulation.

Lattanzi R et al.

Life (basel, Switzerland), 2022

Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.

Butz H et al.

Human Genetics, 2021

Treatment of gonadotropin deficiency during the first year of life: long-term observation and outcome in five boys.

Kohva E et al.

Human Reproduction (oxford, England), 2019

Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism.

Kohva E et al.

Journal of the Endocrine Society, 2018

Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.

Cox KH et al.

Human Molecular Genetics, 2018

Biased signaling through G-protein-coupled PROKR2 receptors harboring missense mutations.

Sbai O et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014

Functional rescue of Kallmann syndrome-associated prokineticin receptor 2 (PKR2) mutants deficient in trafficking.

Chen DN et al.

The Journal of Biological Chemistry, 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

PROKR2 mutations in autosomal recessive Kallmann syndrome.

Tommiska J et al.

Fertility and Sterility, 2013

PROK2/PROKR2 Signaling and Kallmann Syndrome.

Dodé C et al.

Frontiers in 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."