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Ming-Yu Lo

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Open access Jul 2026

Integrated analysis of STRC variants in hereditary hearing impairment using maker-mediated refinement of long-read sequencing with MLPA validation.

The results highlight the diagnostic utility of this combined strategy, integrating LRS with marker-mediated refinements that validated by MLPA assays, in detecting complex STRC variants and advance the understanding of the genetic etiology of SNHI that remains unresolved by conventional NGS approaches.

Cheng-Yu Tsai, Yue-Sheng Lu, Yu-Ting Chiang et al. · 0 citations

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