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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, François Modave, Isabelle Draper, Peter B. Kang
Research output: Contribution to journal › Article › peer-review
7
Scopus
citations