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Shu-Yao Zhu

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Aug 2026

A novel SEMA6B splice-site variant (c.1680-2A>G) causes incompletely penetrant epilepsy via diverse aberrant transcripts.

BACKGROUND While truncating variants in the SEMA6B gene are an established cause of Progressive Myoclonus Epilepsy-1(EPM11), the pathogenic mechanisms of non-last-exon splicing variants, particularly those underlying the frequent yet elusive phenomenon of incomplete penetrance, remain a critical knowledge gap. Elucidat...

Shu-Yao Zhu, Jin Wang, Ze-Min Luo et al. · 0 citations

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