The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness
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DOI: 10.1136/jmedgenet-2022-108568
Abstract: FMR1 premutation cytosine-guanine-guanine repeat expansion alleles are relatively common mutations in the general population that are associated with a neurodegenerative disease (fragile X-associated tremor/ataxia syndrome), reproductive health problems and potentially a wide range of additional… read more here.
Keywords: trial readiness; premutation; international fragile; fragile premutation ... See more keywords