Truncating variants in UBAP1 associated with childhoodâonset nonsyndromic hereditary spastic paraplegia
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DOI: 10.1002/humu.23950
Abstract: Hereditary spastic paraplegia (HSP) is a group of disorders with predominant symptoms of lowerâextremity weakness and spasticity. Despite the delineation of numerous genetic causes of HSP, a significant portion of individuals with HSP remain molecularly… read more here.
Keywords: truncating variants; hereditary spastic; onset nonsyndromic; spastic paraplegia ... See more keywords