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Yunyu Zhou

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Aug 2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

The genotypic and phenotypic spectrum of NMOAS is expanded, the pathogenic role of this variant in splicing dysregulation is confirmed, and the need for long-term monitoring of emerging comorbidities in affected patients is emphasized.

Yue Shen, Yunyu Zhou, Chao Lu et al. · 0 citations