| 000 | 01873 a2200601 4500 | ||
|---|---|---|---|
| 005 | 20250516225034.0 | ||
| 264 | 0 | _c20150115 | |
| 008 | 201501s 0 0 eng d | ||
| 022 | _a1546-1718 | ||
| 024 | 7 |
_a10.1038/ng.3050 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSamocha, Kaitlin E | |
| 245 | 0 | 0 |
_aA framework for the interpretation of de novo mutation in human disease. _h[electronic resource] |
| 260 |
_bNature genetics _cSep 2014 |
||
| 300 |
_a944-50 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aChild Development Disorders, Pervasive _xgenetics |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Code |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 |
_aGenetics, Medical _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 700 | 1 | _aRobinson, Elise B | |
| 700 | 1 | _aSanders, Stephan J | |
| 700 | 1 | _aStevens, Christine | |
| 700 | 1 | _aSabo, Aniko | |
| 700 | 1 | _aMcGrath, Lauren M | |
| 700 | 1 | _aKosmicki, Jack A | |
| 700 | 1 | _aRehnström, Karola | |
| 700 | 1 | _aMallick, Swapan | |
| 700 | 1 | _aKirby, Andrew | |
| 700 | 1 | _aWall, Dennis P | |
| 700 | 1 | _aMacArthur, Daniel G | |
| 700 | 1 | _aGabriel, Stacey B | |
| 700 | 1 | _aDePristo, Mark | |
| 700 | 1 | _aPurcell, Shaun M | |
| 700 | 1 | _aPalotie, Aarno | |
| 700 | 1 | _aBoerwinkle, Eric | |
| 700 | 1 | _aBuxbaum, Joseph D | |
| 700 | 1 | _aCook, Edwin H | |
| 700 | 1 | _aGibbs, Richard A | |
| 700 | 1 | _aSchellenberg, Gerard D | |
| 700 | 1 | _aSutcliffe, James S | |
| 700 | 1 | _aDevlin, Bernie | |
| 700 | 1 | _aRoeder, Kathryn | |
| 700 | 1 | _aNeale, Benjamin M | |
| 700 | 1 | _aDaly, Mark J | |
| 773 | 0 |
_tNature genetics _gvol. 46 _gno. 9 _gp. 944-50 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ng.3050 _zAvailable from publisher's website |
| 999 |
_c24065079 _d24065079 |
||