Varaico: Literature-Extracted Genetic Variants

Gene:PROK2
Variant:p.A24P
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PROK2

NM_001126128.2:p.A24P

Associated Papers

Structural and functional clues challenge the hypothesis that the yjdF riboswitch is natively regulated through broad recognition of azaaromatic compounds.

Spradlin SF et al.

Nucleic Acids Research, 2025

Structural and functional clues challenge the hypothesis that the yjdF riboswitch is natively regulated through broad recognition of azaaromatic compounds.

Spradlin SF et al.

Biorxiv : the Preprint Server for Biology, 2025

Pathogenic signal peptide variants in the human genome.

Gutierrez Guarnizo SA et al.

Nar Genomics and Bioinformatics, 2023

37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › C-region

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Miraoui H et al.

American Journal of Human Genetics, 2013

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

Expanding the phenotype and genotype of female GnRH deficiency.

Shaw ND et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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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."