Varaico: Literature-Extracted Genetic Variants

Gene:TACR3
Variant:p.W208*
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TACR3

NM_001059.3:p.W208*

Associated Papers

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.

Stamou M et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.

Zhu J et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

Central hypogonadotropic hypogonadism: genetic complexity of a complex disease.

Marino M et al.

International Journal of Endocrinology, 2014

Responsiveness to a physiological regimen of GnRH therapy and relation to genotype in women with isolated hypogonadotropic hypogonadism.

Abel BS et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction.

Silveira LG et al.

Brain Research, 2010

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

Genetic variants of G-protein coupled receptors associated with pubertal disorders.

Suzuki E et al.

Reproductive Medicine and Biology, 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."