Varaico: Literature-Extracted Genetic Variants

Gene:PROKR2
Variant:p.R270H
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PROKR2

NM_144773.4:p.R270H

Associated Papers

Genetic Polymorphisms of Prokineticins and Prokineticin Receptors Associated with Human Disease.

Lattanzi R et al.

Life (basel, Switzerland), 2024

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

Prokineticin-Receptor Network: Mechanisms of Regulation.

Lattanzi R et al.

Life (basel, Switzerland), 2022

Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.

Saengkaew T et al.

European Journal of Endocrinology, 2021

The evolving role of whole-exome sequencing in the management of disorders of sex development.

Tenenbaum-Rakover Y et al.

Endocrine Connections, 2021

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

Discovery of a Novel Variant of SEMA3A in a Chinese Patient with Isolated Hypogonadotropic Hypogonadism.

Dai W et al.

International Journal of Endocrinology, 2021

Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism.

Hou Q et al.

European Journal of Endocrinology, 2020

Functional analysis of SEMA3A variants identified in Chinese patients with isolated hypogonadotropic hypogonadism.

Dai W et al.

Clinical Genetics, 2020

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."