Varaico: Literature-Extracted Genetic Variants

Gene:ANOS1
Variant:p.G181Splc
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ANOS1

NM_000216.4:p.G181Splc

Associated Papers

Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism.

Hye Kim J et al.

Endocrine Connections, 2023

36917044 (PubMed )
Supplement: supplementary_table_1.pdf

Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance.

Ahmadzadeh A et al.

International Journal of Molecular and Cellular Medicine, 2015

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

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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."