Varaico: Literature-Extracted Genetic Variants

Gene:ANOS1
Variant:p.C163del1
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ANOS1

NM_000216.4:p.C163del1

Associated Papers

DUVEL: an active-learning annotated biomedical corpus for the recognition of oligogenic combinations.

Nachtegael C et al.

Database : the Journal of Biological Databases and Curation, 2024

Point mutations in KAL1 and the mitochondrial gene MT-tRNA(cys) synergize to produce Kallmann syndrome phenotype.

Wang F et al.

Scientific Reports, 2015

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

Quaynor SD et al.

Fertility and Sterility, 2011

X-linked GnRH deficiency: role of KAL-1 mutations in GnRH deficiency.

Hu Y et al.

Molecular and Cellular Endocrinology, 2011

Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.

Xu N et al.

Fertility and Sterility, 2011

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

Balasubramanian R et al.

Neuroendocrinology, 2010

The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Pedersen-White JR et al.

Molecular Human Reproduction, 2008

KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.

Bhagavath B et al.

Molecular Human Reproduction, 2007

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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."