Varaico: Literature-Extracted Genetic Variants

Gene:PROKR2
Variant:p.V334M
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PROKR2

NM_144773.4:p.V334M

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

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Yang LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

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

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."