| 000 | 02501 a2200805 4500 | ||
|---|---|---|---|
| 005 | 20250516190722.0 | ||
| 264 | 0 | _c20140224 | |
| 008 | 201402s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2013.12.004 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRehman, Atteeq U | |
| 245 | 0 | 0 |
_aMutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cJan 2014 |
||
| 300 |
_a144-52 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 16 _xgenetics |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 |
_aDeafness _xgenetics |
| 650 | 0 | 4 |
_aEpilepsy _xgenetics |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGTPase-Activating Proteins |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aGenetic Loci |
| 650 | 0 | 4 | _aGenome-Wide Association Study |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMembrane Proteins |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aNerve Tissue Proteins |
| 650 | 0 | 4 | _aPakistan |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 |
_aRNA, Messenger _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aSantos-Cortez, Regie Lyn P | |
| 700 | 1 | _aMorell, Robert J | |
| 700 | 1 | _aDrummond, Meghan C | |
| 700 | 1 | _aIto, Taku | |
| 700 | 1 | _aLee, Kwanghyuk | |
| 700 | 1 | _aKhan, Asma A | |
| 700 | 1 | _aBasra, Muhammad Asim R | |
| 700 | 1 | _aWasif, Naveed | |
| 700 | 1 | _aAyub, Muhammad | |
| 700 | 1 | _aAli, Rana A | |
| 700 | 1 | _aRaza, Syed I | |
| 700 | 1 | _aNickerson, Deborah A | |
| 700 | 1 | _aShendure, Jay | |
| 700 | 1 | _aBamshad, Michael | |
| 700 | 1 | _aRiazuddin, Saima | |
| 700 | 1 | _aBillington, Neil | |
| 700 | 1 | _aKhan, Shaheen N | |
| 700 | 1 | _aFriedman, Penelope L | |
| 700 | 1 | _aGriffith, Andrew J | |
| 700 | 1 | _aAhmad, Wasim | |
| 700 | 1 | _aRiazuddin, Sheikh | |
| 700 | 1 | _aLeal, Suzanne M | |
| 700 | 1 | _aFriedman, Thomas B | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 94 _gno. 1 _gp. 144-52 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2013.12.004 _zAvailable from publisher's website |
| 999 |
_c23414751 _d23414751 |
||