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Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients

BACKGROUND: Guanine nucleotide exchange factors (GEFs) play pivotal roles in neuronal cell functions by exchanging GDP to GTP nucleotide and activation of GTPases. We aimed to determine the genotype and phenotype spectrum of GEF mutations by collecting data from a large Iranian cohort with intellect...

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Detalles Bibliográficos
Autores principales:	Mosallaei, Meysam, Ehtesham, Naeim, Beheshtian, Maryam, Khoshbakht, Shahrouz, Davarnia, Behzad, Kahrizi, Kimia, Najmabadi, Hossein
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000939/ https://www.ncbi.nlm.nih.gov/pubmed/35174982 http://dx.doi.org/10.1002/mgg3.1894

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