Varaico: Literature-Extracted Genetic Variants

Gene:ANOS1
Variant:p.Q421*
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ANOS1

NM_000216.4:p.Q421*

Associated Papers

The cysteine-rich region and the whey acidic protein domain are essential for anosmin-1 biological functions.

Esteban PF et al.

Journal of Neurochemistry, 2013

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.

Balasubramanian R et al.

Neuroendocrinology, 2010

Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.

Kim SH et al.

Journal of Neuroendocrinology, 2008

Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.

Tsai PS et al.

Nature Clinical Practice. Endocrinology & Metabolism, 2006

Kallmann syndrome: fibroblast growth factor signaling insufficiency?

Dodé C et al.

Journal of Molecular Medicine (berlin, Germany), 2004

A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome.

Nagata K et al.

Journal of Human Genetics, 2000

A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome.

Jansen C et al.

Hormone Research, 2000

A novel mutation of the KAL1 gene in Kallmann syndrome.

Izumi Y et al.

Endocrine Journal, 1999

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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."