| 000 | 01472 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250517174539.0 | ||
| 264 | 0 | _c20190911 | |
| 008 | 201909s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.13143 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aYousaf, S | |
| 245 | 0 | 0 |
_aINPP5K variant causes autosomal recessive congenital cataract in a Pakistani family. _h[electronic resource] |
| 260 |
_bClinical genetics _c03 2018 |
||
| 300 |
_a682-686 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aCataract _xcongenital |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aComputational Biology _xmethods |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aLoss of Function Mutation |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPakistan |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPhosphoric Monoester Hydrolases _xchemistry |
| 650 | 0 | 4 | _aExome Sequencing |
| 650 | 0 | 4 | _aZebrafish |
| 700 | 1 | _aSheikh, S A | |
| 700 | 1 | _aRiazuddin, S | |
| 700 | 1 | _aWaryah, A M | |
| 700 | 1 | _aAhmed, Z M | |
| 773 | 0 |
_tClinical genetics _gvol. 93 _gno. 3 _gp. 682-686 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.13143 _zAvailable from publisher's website |
| 999 |
_c27594615 _d27594615 |
||