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• W2074244952 abstract "Cheryl Shoubridge and Jozef Gecz and colleagues report the identification of mutations in IQSEC2, a guanine nucleotide exchange factor for ARF GTPases, in individuals with non-syndromic intellectual disability. The first family identified as having a nonsyndromic intellectual disability was mapped in 1988. Here we show that a mutation of IQSEC2, encoding a guanine nucleotide exchange factor for the ADP-ribosylation factor family of small GTPases, caused this disorder. In addition to MRX1, IQSEC2 mutations were identified in three other families with X-linked intellectual disability. This discovery was made possible by systematic and unbiased X chromosome exome resequencing." @default.
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• W2074244952 date "2010-05-16" @default.
• W2074244952 modified "2023-10-18" @default.
• W2074244952 title "Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability" @default.
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• W2074244952 doi "https://doi.org/10.1038/ng.588" @default.
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