Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites

Christine C Bruels, Chengcheng Li, Tonatiuh Mendoza, Jamillah Khan, Hemakumar M Reddy, Elicia A. Estrella, Partha S Ghosh, Basil T. Darras, Hart G W Lidov, Christina A Pacak, Louis M Kunkel, Francois Modave, Isabelle Draper, Peter B Kang

Research output: Contribution to journalArticlepeer-review

5 Scopus citations
Original languageEnglish (US)
JournalMolecular genetics & genomic medicine
DOIs
StatePublished - Mar 2019
Externally publishedYes

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