Varaico: Literature-Extracted Genetic Variants

Gene:PROKR2
Variant:p.Y140*
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PROKR2

NM_144773.4:p.Y140*

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

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.

Mkaouar R et al.

Frontiers in Genetics, 2021

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

The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism.

Abreu AP et al.

Neuroendocrinology, 2010

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.

Balasubramanian R et al.

Neuroendocrinology, 2010

Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.

Abreu AP et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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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."