Archivo:

congenital hypogonadotropic hypogonadism

Updated compendium of genes and variants associated with congenital hypogonadotropic hypogonadism: systematic review, classification pipeline, and network analysis.
  We developed CHH_vd, a publicly available database of genetic variants linked to Congenital Hypogonadotropic Hypogonadism, and CHH_vip, a computational tool for variant interpretation. Analysis of 352 studies identified substantial genetic heterogeneity and refined variant classifications, improving diagnostic accuracy and supporting...