Varaico: Literature-Extracted Genetic Variants

Gene:ANOS1
Variant:p.W237*
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ANOS1

NM_000216.4:p.W237*

Associated Papers

Isolated GNRH deficiency: genotypic and phenotypic characteristics of the genetically heterogeneous Greek population.

Stamou MI et al.

European Journal of Endocrinology, 2017

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

Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome.

Georgopoulos NA et al.

Fertility and Sterility, 2007

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

Tsai PS et al.

Nature Clinical Practice. Endocrinology & Metabolism, 2006

Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis.

de Roux N

Hormone Research, 2005

Kallmann syndrome: fibroblast growth factor signaling insufficiency?

Dodé C et al.

Journal of Molecular Medicine (berlin, Germany), 2004

Analysis of the KAL1 gene in 19 Japanese patients with Kallmann syndrome.

Izumi Y et al.

Endocrine Journal, 2001

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."