http://rdf.disgenet.org/resource/nanopub/NP200008.RAOk9LO7aPdRzlJCZy90a_JW4FHo5Gs0QJQ4Pzn-fb6jw
type: Nanopublication
created: 2015-08-25T14:39:34+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: v3.0.0.0

http://rdf.disgenet.org/resource/nanopub/NP200008.RAOk9LO7aPdRzlJCZy90a_JW4FHo5Gs0QJQ4Pzn-fb6jw130_assertion
type: Assertion
description: [Females with Rhett syndrome with the p.R306C or p.T158M mutations in the MECP2 gene were more likely to have an initial diagnosis of autism, and the specific Rett syndrome symptoms were noted at a later age]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17684768
was generated by: ECO_0000203

lhgdn-20090331
imported on: 2009-03-31

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

disgenetv3.0rdf
version: v3.0.0