Varaico: Literature-Extracted Genetic Variants

Gene:NSMF
Variant:p.T478A
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NSMF

NM_015537.5:p.T478A

Associated Papers

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B

Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism.

Tornberg J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

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

Xu N et al.

Fertility and Sterility, 2011

Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).

Miura K et al.

Journal of Human Genetics, 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."