http://rdf.disgenet.org/resource/nanopub/NP196224.RAvdzcJ0Ngg6EbHzQQOeqtbNyTQEI_T7C2ZLcjNp5zA-8
type: Nanopublication
created: 2015-08-25T14:39:32+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/NP196224.RAvdzcJ0Ngg6EbHzQQOeqtbNyTQEI_T7C2ZLcjNp5zA-8130_assertion
type: Assertion
description: [MECP2 gene nucleotide changes affect pathology in males: at c.1282 G > A (G428S) severe encephalopathy, at C.1030 C > T (R344W) a Rett-like phenotype, at c.590 C > T (T197M) (congenital encephalopathy, microcephaly, and severe developmental delay).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12161600
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