Varaico: Literature-Extracted Genetic Variants

Gene:ANOS1
Variant:p.V263G
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ANOS1

NM_000216.4:p.V263G

Associated Papers

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

Functional dissection of the Drosophila Kallmann's syndrome protein DmKal-1.

Andrenacci D et al.

Bmc Genetics, 2006

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

Tsai PS et al.

Nature Clinical Practice. Endocrinology & Metabolism, 2006

Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein.

Loidi L et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005

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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."