http://rdf.disgenet.org/nanopublications.trig#NP4439.RANmjGdWqDWPn6sKZ_xeBmvaQE8QMut4qAD6P9_xXFVAA
type: Nanopublication
created: 2014-10-02T12:32:00+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#NP4439.RANmjGdWqDWPn6sKZ_xeBmvaQE8QMut4qAD6P9_xXFVAA130_assertion
type: Assertion
description: [Our genetic and functional data support the assumption that mutations in NEK8 cause nephronophthisis (NPHP9), adding another link between proteins mutated in cystic kidney disease and their localization to cilia and centrosomes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/18199800
was generated by: ECO_0000218

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

uniprot-20130724
imported on: 2013-07-24

disgenetrdf
version: v2.1.0