TY  - GEN
AU  - Bruels,Christine C
AU  - Li,Chengcheng
AU  - Mendoza,Tonatiuh
AU  - Khan,Jamillah
AU  - Reddy,Hemakumar M
AU  - Estrella,Elicia A
AU  - Ghosh,Partha S
AU  - Darras,Basil T
AU  - Lidov,Hart G W
AU  - Pacak,Christina A
AU  - Kunkel,Louis M
AU  - Modave,François
AU  - Draper,Isabelle
AU  - Kang,Peter B
TI  - Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites
SN  - 2324-9269
PY  - 2019///0508
KW  - Algorithms
KW  - Animals
KW  - Cells, Cultured
KW  - Computational Biology
KW  - methods
KW  - Drosophila melanogaster
KW  - Genetic Testing
KW  - Humans
KW  - Male
KW  - Muscle, Skeletal
KW  - metabolism
KW  - Mutation
KW  - Myotonia Congenita
KW  - genetics
KW  - Phenotype
KW  - RNA Splice Sites
KW  - Sarcoplasmic Reticulum Calcium-Transporting ATPases
KW  - Exome Sequencing
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/mgg3.552
ER  -