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A. Caprara

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Review Open access Sep 2026

Missense mutations in the SNCA gene: Molecular mechanisms and clinical implications.

The molecular architecture of the SNCA gene is outlined, including regulatory regions, alternative splicing, and untranslated regions that influence αSyn expression and isoform diversity, and seven missense mutations of the SNCA gene are discussed in detail from the genomic level, extending to phenotypic presentations.

Pranaya Gade, Nishant Patel, J. P. Rissardo et al. · 0 citations

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