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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… Click to show full abstract
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 intellectual disability (ID) and/or developmental delay (DD).
Keywords:
phenotype genotype;
nucleotide exchange;
guanine nucleotide;
spectrum;
cohort
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
Link to full text (if available)
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!