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Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases

Hong, Sung Eun; Kneissl, Jana; Cho, Anna; Kim, Man Jin; Park, Soojin; Lee, Jeongeun; Woo, Sijae; et al, JOURNAL OF MEDICAL GENETICS, v.59, no.11, pp.1075 - 1081, 2022-11

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