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Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development

Markéta Wayhelová, Vladimíra Vallová, Petr Brož, Aneta Mikulášová, Dominika Loubalova, Hana Filková, Jan Smetana, Klára Drábová, Renata Gaillyová, Petr Kuglík

2021Journal of Human Genetics19 citationsDOI

Topics & Concepts

ProbandExome sequencingIntellectual disabilityGeneticsCopy-number variationGene duplicationGeneMicroarrayBiologySequence (biology)BioinformaticsMedicineMutationGenomeGene expressionGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesRNA and protein synthesis mechanisms
Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development | Litcius