000 02510 a2200805 4500
005 20250517045037.0
264 0 _c20160620
008 201606s 0 0 eng d
022 _a2211-1247
024 7 _a10.1016/j.celrep.2015.07.023
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGonzaga-Jauregui, Claudia
245 0 0 _aExome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
_h[electronic resource]
260 _bCell reports
_cAug 2015
300 _a1169-83 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650 0 4 _aAnimals
650 0 4 _aCharcot-Marie-Tooth Disease
_xgenetics
650 0 4 _aExome
650 0 4 _aFemale
650 0 4 _aGenetic Load
650 0 4 _aGenetic Variation
650 0 4 _aHSP40 Heat-Shock Proteins
_xgenetics
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aMutation
650 0 4 _aMyelin P2 Protein
_xgenetics
650 0 4 _aPedigree
650 0 4 _aPenetrance
650 0 4 _aPeripheral Nervous System Diseases
_xgenetics
650 0 4 _aPhenotype
650 0 4 _aSerine C-Palmitoyltransferase
_xgenetics
650 0 4 _aSuppression, Genetic
650 0 4 _aZebrafish
700 1 _aHarel, Tamar
700 1 _aGambin, Tomasz
700 1 _aKousi, Maria
700 1 _aGriffin, Laurie B
700 1 _aFrancescatto, Ludmila
700 1 _aOzes, Burcak
700 1 _aKaraca, Ender
700 1 _aJhangiani, Shalini N
700 1 _aBainbridge, Matthew N
700 1 _aLawson, Kim S
700 1 _aPehlivan, Davut
700 1 _aOkamoto, Yuji
700 1 _aWithers, Marjorie
700 1 _aMancias, Pedro
700 1 _aSlavotinek, Anne
700 1 _aReitnauer, Pamela J
700 1 _aGoksungur, Meryem T
700 1 _aShy, Michael
700 1 _aCrawford, Thomas O
700 1 _aKoenig, Michel
700 1 _aWiller, Jason
700 1 _aFlores, Brittany N
700 1 _aPediaditrakis, Igor
700 1 _aUs, Onder
700 1 _aWiszniewski, Wojciech
700 1 _aParman, Yesim
700 1 _aAntonellis, Anthony
700 1 _aMuzny, Donna M
700 1 _aKatsanis, Nicholas
700 1 _aBattaloglu, Esra
700 1 _aBoerwinkle, Eric
700 1 _aGibbs, Richard A
700 1 _aLupski, James R
773 0 _tCell reports
_gvol. 12
_gno. 7
_gp. 1169-83
856 4 0 _uhttps://doi.org/10.1016/j.celrep.2015.07.023
_zAvailable from publisher's website
999 _c25153639
_d25153639