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Article

A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features

2024-09-25

Abstract excerpt

<h4>Background</h4> Parkinson’s disease (PD) affects millions of people worldwide, but only 5–10% of patients suffer from a monogenic form of the disease with Mendelian inheritance. SNCA, the gene encoding for the protein alpha-synuclein (aSyn), was the first to be associated with familial forms of PD and, since then, several missense variants and multiplications of the SNCA gene have been established as rare c...

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Literature Corpus work
d6fd75eb-2a96-5d96-b10d-71fcca9cee61
DOI
10.1101/2024.09.23.24313864
Open publication

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A novel alpha-synuclein G14R missense variant is associated with atypical neuropathological featuresDOI 10.1101/2024.09.23.24313864
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