Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3.

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DOI:10.1161/CIRCGEN.120.003202
作者：Mira Holliday, Emma S Singer, Samantha B Ross, Seakcheng Lim, Sean Lal, Jodie Ingles, Christopher Semsarian, Richard D Bagnall
文献类型：期刊论文
补充材料：仅需补充材料
文献链接：https://doi.org/10.1161/CIRCGEN.120.003202

Wolters Kluwer Ovid

Abstract：Background: Transcriptome sequencing can improve genetic diagnosis of Mendelian diseases but requires access to tissue expressing disease-relevant transcripts. We explored genetic testing of

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