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Author

Nishanth Gowda

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Review Sep 2026

Splice-site variants in neurology: from molecular mechanisms to clinical interpretation — a focused review

This review synthesizes the molecular basis of splice-altering variants, current standards for their nomenclature and computational prediction, the practical strengths and limitations of RNA-level validation, and their contribution to epilepsy, hereditary neuropathy, ataxia, dystonia, mitochondrial disease, neuromuscul...

Nishanth Gowda, S. Harish · 0 citations

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