Bruels, Christine C <br/><br/>
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.  [electronic resource] 

 -  Molecular genetics & genomic medicine  03 2019 
 - e552 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2324-9269 
<br/><br/><label>Standard No.: </label>10.1002/mgg3.552  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Algorithms<br/>Animals<br/>Cells, Cultured<br/>Computational Biology--methods<br/>Drosophila melanogaster<br/>Genetic Testing--methods<br/>Humans<br/>Male<br/>Muscle, Skeletal--metabolism<br/>Mutation<br/>Myotonia Congenita--genetics<br/>Phenotype<br/>RNA Splice Sites--genetics<br/>Sarcoplasmic Reticulum Calcium-Transporting ATPases--genetics<br/>Exome Sequencing--methods<br/>Young Adult