A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome
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The majority of patients affected by fragile X syndrome (OMIM #300624), a common inherited form of autism spectrum disorders and intellectual disability, displays a CGG triplet repeat expansion in the Fragile X messenger ribonucleoprotein 1 (FMR1) gene promoto... ...
