000 | 01572 a2200469 4500 | ||
---|---|---|---|
005 | 20250517140402.0 | ||
264 | 0 | _c20170905 | |
008 | 201709s 0 0 eng d | ||
022 | _a1546-1718 | ||
024 | 7 |
_a10.1038/ng.3789 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aKosmicki, Jack A | |
245 | 0 | 0 |
_aRefining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. _h[electronic resource] |
260 |
_bNature genetics _cApr 2017 |
||
300 |
_a504-510 p. _bdigital |
||
500 | _aPublication Type: Journal Article | ||
650 | 0 | 4 |
_aAutism Spectrum Disorder _xgenetics |
650 | 0 | 4 |
_aExome _xgenetics |
650 | 0 | 4 |
_aGenetic Predisposition to Disease _xgenetics |
650 | 0 | 4 |
_aGenetic Variation _xgenetics |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
650 | 0 | 4 |
_aNeurodevelopmental Disorders _xgenetics |
650 | 0 | 4 | _aPhenotype |
700 | 1 | _aSamocha, Kaitlin E | |
700 | 1 | _aHowrigan, Daniel P | |
700 | 1 | _aSanders, Stephan J | |
700 | 1 | _aSlowikowski, Kamil | |
700 | 1 | _aLek, Monkol | |
700 | 1 | _aKarczewski, Konrad J | |
700 | 1 | _aCutler, David J | |
700 | 1 | _aDevlin, Bernie | |
700 | 1 | _aRoeder, Kathryn | |
700 | 1 | _aBuxbaum, Joseph D | |
700 | 1 | _aNeale, Benjamin M | |
700 | 1 | _aMacArthur, Daniel G | |
700 | 1 | _aWall, Dennis P | |
700 | 1 | _aRobinson, Elise B | |
700 | 1 | _aDaly, Mark J | |
773 | 0 |
_tNature genetics _gvol. 49 _gno. 4 _gp. 504-510 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng.3789 _zAvailable from publisher's website |
999 |
_c26874852 _d26874852 |