Evaluation of aqp4 functional variants and its association with fragile x-associated tremor/ataxia syndrome

HIGHLIGHTS

• who: Andrea Elias-Mas from the University of California, Davis, United States have published the paper: Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome, in the Journal: (JOURNAL) of 06/01/2023
• what: This study was conducted on genotype data from a total of 160 unrelated FMR1 premutation carriers (95 presenting FXTAS symptoms and 65 without FXTAS clinical symptoms). Given the sample size this study had limited power. This study has two main limitations that might be explained because of the rarity of the disorder.
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