Article

A novel alpha-synuclein K58N missense variant in a patient with Parkinson’s disease

2025-02-13

Abstract excerpt

Mutations and multiplications in the SNCA gene , encoding alpha-synuclein (aSyn), are associated with familial forms of Parkinson’s disease (PD). We report the identification of a novel SNCA missense mutation (NM_000345.4, cDNA 174G>C; protein K58N) in a PD patient using whole exome sequencing, and describe comprehensive molecular and cellular analysss of the effects of this novel mutation. The patient exhibited...

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Literature Corpus work: 013bfbb3-8723-537c-abc9-07cb9fe8f19e
DOI: 10.1101/2025.02.07.25321793

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