Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.A280T
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NR5A1

NM_004959.5:p.A280T

Associated Papers

Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.

Malikova J et al.

Plos One, 2014

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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."