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A novel SPAST gene splicing variant (c.1617-2A>C) in a heterozygous carrier with hereditary spastic paraplegia

Elvira Sbragia1,2, Andrea Assini1, Silvia Calzavara3

  • 1Unit of Neurology, Galliera Hospital, Genoa, Italy.

Eneurologicalsci
|June 17, 2024
PubMed

Keywords:
Genetic risk factor, splice variantGenotypeHSPHereditary spastic paraplegiaSPASTSPG4SpastinVUS

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