Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.I373S
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NR0B1

NM_000475.5:p.I373S

Associated Papers

Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.

Kałużna M et al.

Frontiers in Endocrinology, 2024

NR0B1 (DAX1) mutations in patients affected by congenital adrenal hypoplasia with growth hormone deficiency as a new finding.

Rojek A et al.

Journal of Applied Genetics, 2013

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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."