Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. [electronic resource]
Producer: 20190508Description: e552 p. digitalISSN:- 2324-9269
- Algorithms
- Animals
- Cells, Cultured
- Computational Biology -- methods
- Drosophila melanogaster
- Genetic Testing -- methods
- Humans
- Male
- Muscle, Skeletal -- metabolism
- Mutation
- Myotonia Congenita -- genetics
- Phenotype
- RNA Splice Sites -- genetics
- Sarcoplasmic Reticulum Calcium-Transporting ATPases -- genetics
- Exome Sequencing -- methods
- Young Adult
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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