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Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality
Download from doi.orgA novel homozygous VPS11 variant may cause generalized dystonia
UploadA patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson’s disease
UploadSighting acute myocardial infarction through platelet gene expression
Download from doi.orgThe GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p
Download from doi.orgExome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Download from www.nature.comGlucocerebrosidase mutations in primary parkinsonism
Download from doi.orgExome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS.
Download from doi.orgLRRK2 mutations in Parkinson's disease: Confirmation of a gender effect in the Italian population
Download from doi.orgThe spectrum of factor XI deficiency in Italy
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