http://rdf.disgenet.org/nanopublications.trig#NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI
type: Nanopublication
created: 2014-10-02T12:32:02+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#NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI130_assertion
type: Assertion
description: [Wilson's disease (WD) is characterized by impaired hepatic copper secretion and subsequent copper accumulation in many organs predominantly liver and brain, secondary to loss of function mutations in the copper transport protein ATP7B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/16607473
was generated by: ECO_0000218

ctd human-20130708
imported on: 2013-07-24

DisGeNET evidence - CURATED
type: ECO_0000205
comment: Gene-disease associations manually curated.

disgenetrdf
version: v2.1.0