Varaico: Literature-Extracted Genetic Variants

Gene:NSMF
Variant:p.D253N
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NSMF

NM_001130969.3:p.D253N

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

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

Quaynor SD et al.

Fertility and Sterility, 2011

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

Xu N et al.

Fertility and Sterility, 2011

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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."