Varaico: Literature-Extracted Genetic Variants

Gene:TACR3
Variant:p.T246Splc
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TACR3

NM_001059.3:p.T246Splc

Associated Papers

Central hypogonadotropic hypogonadism: genetic complexity of a complex disease.

Marino M et al.

International Journal of Endocrinology, 2014

Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.

Francou B et al.

Plos One, 2011

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

Silveira LG et al.

Brain Research, 2010

TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans.

Young J et al.

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."