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• W2523784865 abstract "We performed whole genome sequencing (WGS) in nine families from India with early-onset hereditary spastic paraplegia (HSP). We obtained a genetic diagnosis in 4/9 (44 %) families within known HSP genes (DDHD2 and CYP2U1), as well as perixosomal biogenesis disorders (PEX16) and GM1 gangliosidosis (GLB1). In the remaining patients, no candidate structural variants, copy number variants or predicted splice variants affecting an extended candidate gene list were identified. Our findings demonstrate the efficacy of using WGS for diagnosing early-onset HSP, particularly in consanguineous families (4/6 diagnosed), highlighting that two of the diagnoses would not have been made using a targeted approach." @default.
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• W2523784865 date "2016-09-28" @default.
• W2523784865 modified "2023-10-07" @default.
• W2523784865 title "Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing" @default.
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• W2523784865 doi "https://doi.org/10.1007/s10048-016-0495-z" @default.
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