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Published in 2024 at "Communications Biology"
DOI: 10.1038/s42003-024-07120-6
Abstract: Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by hypermethylation of expanded CGG repeats (>200) in the FMR1 gene leading to gene silencing and loss of Fragile X Messenger Ribonucleoprotein (FMRP) expression. FMRP plays…
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Keywords:
disease phenotype;
deep functional;
fragile syndrome;
functional measurements ... See more keywords