| 000 | 01407 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250517134208.0 | ||
| 264 | 0 | _c20170629 | |
| 008 | 201706s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.23183 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSmith, Erica D | |
| 245 | 0 | 0 |
_aClassification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. _h[electronic resource] |
| 260 |
_bHuman mutation _c05 2017 |
||
| 300 |
_a600-608 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 |
_aGenetic Association Studies _xmethods |
| 650 | 0 | 4 |
_aGenomics _xmethods |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aReproducibility of Results |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aRadtke, Kelly | |
| 700 | 1 | _aRossi, Mari | |
| 700 | 1 | _aShinde, Deepali N | |
| 700 | 1 | _aDarabi, Sourat | |
| 700 | 1 | _aEl-Khechen, Dima | |
| 700 | 1 | _aPowis, Zöe | |
| 700 | 1 | _aHelbig, Katherine | |
| 700 | 1 | _aWaller, Kendra | |
| 700 | 1 | _aGrange, Dorothy K | |
| 700 | 1 | _aTang, Sha | |
| 700 | 1 | _aFarwell Hagman, Kelly D | |
| 773 | 0 |
_tHuman mutation _gvol. 38 _gno. 5 _gp. 600-608 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.23183 _zAvailable from publisher's website |
| 999 |
_c26802657 _d26802657 |
||