Varaico: Literature-Extracted Genetic Variants

Gene:NR0B1
Variant:p.Q409*
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NR0B1

NM_000475.5:p.Q409*

Associated Papers

Inhibition of NR5A1 Phosphorylation Alleviates a Transcriptional Suppression Defect Caused by a Novel NR0B1 Mutation.

Abe I et al.

Journal of the Endocrine Society, 2022

Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism.

Hou Q et al.

European Journal of Endocrinology, 2020

Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review.

Yue F et al.

Molecular Cytogenetics, 2019

Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family.

Xu XQ et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 0

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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."