Varaico: Literature-Extracted Genetic Variants

Gene:PROKR2
Variant:p.Y284C
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PROKR2

NM_144773.4:p.Y284C

Associated Papers

Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.

Martinez-Mayer J et al.

Frontiers in Endocrinology, 2023

Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects.

Ulloa-Aguirre A et al.

International Journal of Molecular Sciences, 2021

Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction.

Min L et al.

Neuroendocrinology, 2016

G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.

Noel SD et al.

Molecular and Cellular Endocrinology, 2011

Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships.

Brioude F et al.

European Journal of Endocrinology, 2010

Molecular genetics of isolated hypogonadotropic hypogonadism and Kallmann syndrome.

Karges B et al.

Endocrine Development, 2005

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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."