| 000 | 01078 a2200301 4500 | ||
|---|---|---|---|
| 005 | 20250516135858.0 | ||
| 264 | 0 | _c20140213 | |
| 008 | 201402s 0 0 eng d | ||
| 022 | _a1879-0380 | ||
| 024 | 7 |
_a10.1016/j.gde.2013.01.007 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _ade Ligt, Joep | |
| 245 | 0 | 0 |
_aPoint mutations as a source of de novo genetic disease. _h[electronic resource] |
| 260 |
_bCurrent opinion in genetics & development _cJun 2013 |
||
| 300 |
_a257-63 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Review | ||
| 650 | 0 | 4 |
_aGenetic Diseases, Inborn _xetiology |
| 650 | 0 | 4 | _aGenome, Human |
| 650 | 0 | 4 |
_aGerm-Line Mutation _xgenetics |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPoint Mutation _xgenetics |
| 700 | 1 | _aVeltman, Joris A | |
| 700 | 1 | _aVissers, Lisenka E L M | |
| 773 | 0 |
_tCurrent opinion in genetics & development _gvol. 23 _gno. 3 _gp. 257-63 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.gde.2013.01.007 _zAvailable from publisher's website |
| 999 |
_c22546547 _d22546547 |
||