Varaico: Literature-Extracted Genetic Variants

Gene:TACR3
Variant:p.I249V
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TACR3

NM_001059.3:p.I249V

Associated Papers

Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.

Kałużna M et al.

Endocrine Connections, 2025

Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.

Kałużna M et al.

Frontiers in Endocrinology, 2024

TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients.

Noel SD et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014

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

Noel SD et al.

Molecular and Cellular Endocrinology, 2011

TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.

Gianetti E et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

Reversible isolated hypogonadotropic hypogonadism due to mutations in the neurokinin B regulation of gonadotropin-releasing hormone release.

Root AW

The Journal of Clinical Endocrinology and Metabolism, 2010

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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."