An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD

Autor:	Lyubov E, Salnikova, Dmitry S, Kolobkov, Darya A, Sviridova, Serikbai K, Abilev
Rok vydání:	2021
Předmět:	Male Primary Immunodeficiency Diseases Databases Genetic Humans Female Genetic Predisposition to Disease Polymorphism Single Nucleotide
Zdroj:	Human genetics. 140(9)
ISSN:	1432-1203
Popis:	Primary immunodeficiencies (PID) are a diverse group of genetic disorders caused by inadequate development and function of immune system. Identifying genetic etiology is important for genetic counselling and treatment decisions. Clinical relevance of genetic variants is a complex problem depending on gene-specific and variant specific genotype-phenotype interactions. To address this challenge, we aimed to characterize the pathogenic landscape of PID genes by combining the analysis of germline variations reported in ClinVar and HGMD
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::c257b11246baf188ee9e3cc0c7c7ea71 https://pubmed.ncbi.nlm.nih.gov/34272616 Zobrazit plný text záznamu Full text from SpringerLink