000			01657 a2200445 4500
005			20250515152935.0
264		0	_c20090528
008			200905s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.20939 _2doi
040			_aNLM _beng _cNLM
100	1		_aValdmanis, Paul N
245	0	0	_aThe proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease. _h[electronic resource]
260			_bHuman mutation _cMar 2009
300			_aE481-9 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdenosine Triphosphatases _xgenetics
650	0	4	_aAmino Acid Substitution
650	0	4	_aAmyloid beta-Protein Precursor _xgenetics
650	0	4	_aComputational Biology _xmethods
650	0	4	_aGTP Phosphohydrolases _xgenetics
650	0	4	_aGTP-Binding Proteins
650	0	4	_aGenetic Predisposition to Disease _xgenetics
650	0	4	_aHumans
650	0	4	_aMembrane Proteins
650	0	4	_aMutation
650	0	4	_aNeurodegenerative Diseases _xgenetics
650	0	4	_aPresenilin-1 _xgenetics
650	0	4	_aSoftware
650	0	4	_aSpastin
650	0	4	_aSuperoxide Dismutase _xgenetics
650	0	4	_aSuperoxide Dismutase-1
650	0	4	_aSurvival of Motor Neuron 1 Protein _xgenetics
650	0	4	_aUbiquitin-Protein Ligases _xgenetics
650	0	4	_atau Proteins _xgenetics
700	1		_aVerlaan, Dominique J
700	1		_aRouleau, Guy A
773	0		_tHuman mutation _gvol. 30 _gno. 3 _gp. E481-9
856	4	0	_uhttps://doi.org/10.1002/humu.20939 _zAvailable from publisher's website
999			_c18555741 _d18555741