000 02020 a2200625 4500
005 20250517042350.0
264 0 _c20161213
008 201612s 0 0 eng d
022 _a1476-5438
024 7 _a10.1038/ejhg.2015.157
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSeco, Celia Zazo
245 0 0 _aNovel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells.
_h[electronic resource]
260 _bEuropean journal of human genetics : EJHG
_cApr 2016
300 _a542-9 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAdolescent
650 0 4 _aAdult
650 0 4 _aAnimals
650 0 4 _aCOS Cells
650 0 4 _aCalcium
_xmetabolism
650 0 4 _aCalcium-Binding Proteins
_xgenetics
650 0 4 _aChild
650 0 4 _aChlorocebus aethiops
650 0 4 _aDeafness
_xgenetics
650 0 4 _aFemale
650 0 4 _aHair Cells, Auditory
_xmetabolism
650 0 4 _aHumans
650 0 4 _aIntegrin alpha2beta1
_xmetabolism
650 0 4 _aMale
650 0 4 _aMutation, Missense
650 0 4 _aPedigree
650 0 4 _aProtein Binding
700 1 _aGiese, Arnaud P
700 1 _aShafique, Sobia
700 1 _aSchraders, Margit
700 1 _aOonk, Anne M M
700 1 _aGrossheim, Mike
700 1 _aOostrik, Jaap
700 1 _aStrom, Tim
700 1 _aHegde, Rashmi
700 1 _avan Wijk, Erwin
700 1 _aFrolenkov, Gregory I
700 1 _aAzam, Maleeha
700 1 _aYntema, Helger G
700 1 _aFree, Rolien H
700 1 _aRiazuddin, Saima
700 1 _aVerheij, Joke B G M
700 1 _aAdmiraal, Ronald J
700 1 _aQamar, Raheel
700 1 _aAhmed, Zubair M
700 1 _aKremer, Hannie
773 0 _tEuropean journal of human genetics : EJHG
_gvol. 24
_gno. 4
_gp. 542-9
856 4 0 _uhttps://doi.org/10.1038/ejhg.2015.157
_zAvailable from publisher's website
999 _c25073593
_d25073593