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2. Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion. Carroll R; Shaw M; Arvio M; Gardner A; Kumar R; Hodgson B; Heron S; McKenzie F; Järvelä I; Gecz J Eur J Med Genet; 2020 Oct; 63(10):104010. PubMed ID: 32688058 [TBL] [Abstract][Full Text] [Related]
3. Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation. Carion N; Briand A; Cuisset L; Pacot L; Afenjar A; Bienvenu T Gene; 2020 Aug; 753():144793. PubMed ID: 32446918 [TBL] [Abstract][Full Text] [Related]
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10. Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing. Liang Q; Liu Y; Liu Y; Duan R; Meng W; Zhan J; Xia J; Mao A; Liang D; Wu L Clin Chem; 2022 Dec; 68(12):1529-1540. PubMed ID: 36171182 [TBL] [Abstract][Full Text] [Related]
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20. Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome. Xie N; Gong H; Suhl JA; Chopra P; Wang T; Warren ST PLoS One; 2016; 11(10):e0165499. PubMed ID: 27768763 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]