{"id":"CONICETDig_5ca84b09a92373913460191bd5fc26ce","dc:title":"CHH_vd: database of genes and variants associated with Congenital Hypogonadotropic Hypogonadism","dc:creator":"Tellechea, Mariana Lorena","dc:date":"2025","dc:description":["We systematically collected variants reported in the scientific literature as causal for Congenital Hypogonadotropic Hypogonadism (CHH [MIM 146110]) and created CHH_vd, a well-annotated, curated database of variants. The identified sequence variants were critically evaluated using the American College of Medical Genetics and Genomics (ACMG)\/ Association for Molecular Pathology (AMP) standards and related guidelines. For variant interpretation, we implemented a novel custom-built computational pipeline for variant annotation and classification."],"dc:format":["application\/vnd.openxmlformats-officedocument.spreadsheetml.sheet"],"dc:language":["eng"],"dc:type":"dataset","dc:rights":["info:eu-repo\/semantics\/openAccess","https:\/\/creativecommons.org\/licenses\/by-nc-sa\/2.5\/ar\/"],"dc:relation":["info:eu-repo\/grantAgreement\/Ministerio de Ciencia, Tecnolog\u00eda e Innovaci\u00f3n Productiva\/Proyectos de Redes Federales de Alto Impacto 2023 #3","info:eu-repo\/grantAgreement\/Ministerio de Ciencia, Tecnolog\u00eda e Innovaci\u00f3n Productiva. Agencia Nacional de Promoci\u00f3n Cient\u00edfica y Tecnol\u00f3gica. Fondo para la Investigaci\u00f3n Cient\u00edfica y Tecnol\u00f3gica\/Proyectos de Redes Federales de Alto Impacto 2023 #3","info:eu-repo\/grantAgreement\/Ministerio de Educacion, Cultura, Ciencia y Tecnologia. Secretaria de Gobierno de Ciencia Tecnologia E Innovacion Productiva. Agencia Nacional de Promocion Cient y Tecnologica. Fondo Argentino Sectorial.\/Proyectos de Redes Federales de Alto Impacto 2023 #3"],"dc:identifier":"https:\/\/repositoriosdigitales.mincyt.gob.ar\/vufind\/Record\/CONICETDig_5ca84b09a92373913460191bd5fc26ce"}