Varaico: Literature-Extracted Genetic Variants

Gene:NSMF
Variant:p.A5_R8del0
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NSMF

NM_001130969.3:p.A5_R8del0

Associated Papers

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

Miraoui H et al.

American Journal of Human Genetics, 2013

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

Xu N et al.

Fertility and Sterility, 2011

Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes.

Sykiotis GP et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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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."