| 000 | 01867 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250518021246.0 | ||
| 264 | 0 | _c20190508 | |
| 008 | 201905s 0 0 eng d | ||
| 022 | _a2324-9269 | ||
| 024 | 7 |
_a10.1002/mgg3.552 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBruels, Christine C | |
| 245 | 0 | 0 |
_aIdentification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. _h[electronic resource] |
| 260 |
_bMolecular genetics & genomic medicine _c03 2019 |
||
| 300 |
_ae552 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAlgorithms |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 |
_aComputational Biology _xmethods |
| 650 | 0 | 4 | _aDrosophila melanogaster |
| 650 | 0 | 4 |
_aGenetic Testing _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xmetabolism |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aMyotonia Congenita _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRNA Splice Sites _xgenetics |
| 650 | 0 | 4 |
_aSarcoplasmic Reticulum Calcium-Transporting ATPases _xgenetics |
| 650 | 0 | 4 |
_aExome Sequencing _xmethods |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aLi, Chengcheng | |
| 700 | 1 | _aMendoza, Tonatiuh | |
| 700 | 1 | _aKhan, Jamillah | |
| 700 | 1 | _aReddy, Hemakumar M | |
| 700 | 1 | _aEstrella, Elicia A | |
| 700 | 1 | _aGhosh, Partha S | |
| 700 | 1 | _aDarras, Basil T | |
| 700 | 1 | _aLidov, Hart G W | |
| 700 | 1 | _aPacak, Christina A | |
| 700 | 1 | _aKunkel, Louis M | |
| 700 | 1 | _aModave, François | |
| 700 | 1 | _aDraper, Isabelle | |
| 700 | 1 | _aKang, Peter B | |
| 773 | 0 |
_tMolecular genetics & genomic medicine _gvol. 7 _gno. 3 _gp. e552 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/mgg3.552 _zAvailable from publisher's website |
| 999 |
_c29298323 _d29298323 |
||