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Paper Details

Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.
J Med Genet
6
2022
CNVs, NMD, NMDs, RNA, aberrant mRNA, gene ontologies, muscle, muscle tissues, muscle transcriptomes, neuromuscular diseases, neuromuscular disorders, patient, patient-, patient-derived cells, patients, rare diseases, variants
Author NameAffiliation
Jinkuk KimGraduate School of Medical Science and Engineering and KAIST Institute for Health Science and Technology, Korea Advanced Institute of Science and Technology
Jinkuk KimGraduate School of Medical Science and Engineering and KAIST Institute for Health Science and Technology, Korea Advanced Institute of Science and Technology
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