Original language | English (US) |
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Journal | Molecular genetics & genomic medicine |
DOIs | |
State | Published - Mar 2019 |
Externally published | Yes |
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 journal › Article › peer-review
8
Scopus
citations