NP782048.RAk32C 5AC-WSCwGOnWqzSBT-mpEbOG9S9SP wudfCEZI
type: Nanopublication
has assertion: NP782048.RAk32C 5AC-WSCwGOnWqzSBT-mpEbOG9S9SP wudfCEZI130 assertion
has provenance: NP782048.RAk32C 5AC-WSCwGOnWqzSBT-mpEbOG9S9SP wudfCEZI130 provenance
has publication info: NP782048.RAk32C 5AC-WSCwGOnWqzSBT-mpEbOG9S9SP wudfCEZI130 publicationInfo
created: 2016-05-13T12:47:39+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v4.0.0.0

NP782048.RAk32C 5AC-WSCwGOnWqzSBT-mpEbOG9S9SP wudfCEZI130 assertion
type: Assertion
description: [We performed eIF2B GEF activity assays in cells from 63 patients presenting with different clinical forms and eIF2B mutations in comparison to controls but also to patients with defined leukodystrophies or CACH/VWM-like diseases without eIF2B mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/20016818
was generated by: ECO_0000203

befree-2016
imported on: 2016-02-19

DisGeNET evidence - LITERATURE
type: ECO_0000212
comment: Gene-disease associations inferred from text-mining the literature.

disgenetv3.0rdf
version: v4.0.0