http://rdf.disgenet.org/nanopublications.trig#NP940013.RAcr5eKzvpJfbeMw3y709gRsDwrE7ULIGNwHAccCfzC_o
type: Nanopublication
created: 2014-10-02T12:41:36+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetrdf
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: v2.1.0.0

http://rdf.disgenet.org/nanopublications.trig#NP940013.RAcr5eKzvpJfbeMw3y709gRsDwrE7ULIGNwHAccCfzC_o130_assertion
type: Assertion
description: [Our results confirm the presence of mutational hot spots in MECP2, broaden the spectrum of mutations, pinpoint additional mutational hot spots and establish that the preserved speech variant is indeed allelic of the classic form.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10854091
was generated by: ECO_0000203

befree-20140225
imported on: 2014-02-25

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

disgenetrdf
version: v2.1.0