广titinopathy使

Maria Francesca Di Feo1,2, Ali Oghabian2, Ella Nippala2

  • 1Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.

概括

通过对外子的使用来分析titin截断变体 (TTNtv) 揭示了基因型-表型相关性. 这种方法有助于精确诊断和预后的titinopathies和类似的遗传疾病.

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