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