http://rdf.disgenet.org/resource/nanopub/NP952687.RAXpIisGsFKxx6Txg9rn0wIisMNqPh9saZJLjTY2YXA4I
type: Nanopublication
created: 2016-05-13T12:48:56+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

http://rdf.disgenet.org/resource/nanopub/NP952687.RAXpIisGsFKxx6Txg9rn0wIisMNqPh9saZJLjTY2YXA4I130_assertion
type: Assertion
description: [Mutations in the genes for eIF2B cause an often severe neurological disorder, vanishing white matter. eIF2Bγ and eIF2Bε contain homologous and conserved domains with sequence similarity to nucleotidyl transferases (NTs) and acyl transferases and can form a binary complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/22238342
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