000			02321 a2200697 4500
005			20250518094910.0
264		0	_c20200727
008			202007s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2020.03.009 _2doi
040			_aNLM _beng _cNLM
100	1		_aMuir, Alison M
245	0	0	_aBi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. _h[electronic resource]
260			_bAmerican journal of human genetics _c05 2020
300			_a623-631 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aActive Transport, Cell Nucleus
650	0	4	_aAlleles
650	0	4	_aAnimals
650	0	4	_aBrain _xabnormalities
650	0	4	_aCell Nucleus _xmetabolism
650	0	4	_aChild, Preschool
650	0	4	_aDendrites _xmetabolism
650	0	4	_aDrosophila Proteins _xgenetics
650	0	4	_aDrosophila melanogaster
650	0	4	_aEye Abnormalities _xgenetics
650	0	4	_aFemale
650	0	4	_aFibroblasts
650	0	4	_aGenes, Recessive
650	0	4	_aHeart Defects, Congenital _xgenetics
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aInfant, Newborn
650	0	4	_aJews _xgenetics
650	0	4	_aLoss of Function Mutation _xgenetics
650	0	4	_aMale
650	0	4	_aNuclear Pore Complex Proteins _xdeficiency
650	0	4	_aSeizures _xmetabolism
650	0	4	_aSyndrome
650	0	4	_abeta Karyopherins _xmetabolism
700	1		_aCohen, Jennifer L
700	1		_aSheppard, Sarah E
700	1		_aGuttipatti, Pavithran
700	1		_aLo, Tsz Y
700	1		_aWeed, Natalie
700	1		_aDoherty, Dan
700	1		_aDeMarzo, Danielle
700	1		_aFagerberg, Christina R
700	1		_aKjærsgaard, Lars
700	1		_aLarsen, Martin J
700	1		_aRump, Patrick
700	1		_aLöhner, Katharina
700	1		_aHirsch, Yoel
700	1		_aZeevi, David A
700	1		_aZackai, Elaine H
700	1		_aBhoj, Elizabeth
700	1		_aSong, Yuanquan
700	1		_aMefford, Heather C
773	0		_tAmerican journal of human genetics _gvol. 106 _gno. 5 _gp. 623-631
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2020.03.009 _zAvailable from publisher's website
999			_c30843151 _d30843151