Varaico: Literature-Extracted Genetic Variants

Gene:PROK2
Variant:p.R73C
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PROK2

NM_001126128.2:p.R73C

Associated Papers

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3

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

Lattanzi R et al.

Life (basel, Switzerland), 2024

Investigation of the molecular genetic causes of non-syndromic primary ovarian ınsufficiency by next generation sequencing analysis.

Er E et al.

Archives of Endocrinology and Metabolism, 2023

Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism

Çiftci N et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.

Greer C et al.

Human Reproduction (oxford, England), 2021

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.

Martin C et al.

Endocrine Reviews, 2011

The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism.

Abreu AP et al.

Neuroendocrinology, 2010

Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.

Cole LW et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.

Leroy C et al.

European Journal of Human Genetics : Ejhg, 2008

Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

Dodé C et al.

Plos Genetics, 2006

[On the problem of female infertility: A search for genetic markers].

Eneva NG et al.

Zhurnal Obshchei Biologii, 0

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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."