http://rdf.disgenet.org/nanopublications.trig#NP25528.RANXdK_IZTRJJx5P-MtMk-XvuXAynJQ_SQ0LCOmIHiY40
type: Nanopublication
created: 2014-10-02T12:32:10+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#NP25528.RANXdK_IZTRJJx5P-MtMk-XvuXAynJQ_SQ0LCOmIHiY40130_assertion
type: Assertion
description: [We identified nonsynonymous mutations in PCSK5 in patients with VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb malformation OMIM 192350) and caudal regression syndrome, the phenotypic features of which resemble the mouse mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/18519639
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