Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
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
A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.
Stamou M et al.
The Journal of Clinical Endocrinology and Metabolism, 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
A Novel Mutation of DAX-1 Associated with Secretory Azoospermia.
Mou L et al.
Plos One, 2015
DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Kinoshita E et al.
Hormone Research, 1997
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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