Article
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families.
Neurogenetics - 1 Oct 2023
Skoczylas S, Jakiel P, Płoszaj T, Gadzalska K, Borowiec M, Pastorczak A, Moczulska H, Malarska M, Eckersdorf-Mastalerz A, Budzyńska E, Zmysłowska A
Abstract excerpt
BACKGROUND: Intellectual disability (ID) affects 1-3% of the world population. The number of genes whose dysfunctions cause intellectual disability is increasing. In addition, new gene associations are constantly being discovered, as well as specific phenotypic features for already identified genetic alterations are being described. The aim of our study was to search for pathogenic variants in genes responsible...
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