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

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

Abstract 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 i...

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Bibliographic Details
Main Authors: Meysam Mosallaei, Naeim Ehtesham, Maryam Beheshtian, Shahrouz Khoshbakht, Behzad Davarnia, Kimia Kahrizi, Hossein Najmabadi
Format: Article
Language:English
Published: Wiley 2022-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
developmental delay
guanine nucleotide exchange factors
intellectual disability
Iranian families
Online Access:https://doi.org/10.1002/mgg3.1894

Internet

https://doi.org/10.1002/mgg3.1894

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