http://rdf.disgenet.org/resource/nanopub/NP241204.RA9FxgHDkIDeNaY947molNNYsv3QOU0npZEB9CzV9S-A4
type: Nanopublication
created: 2016-05-13T12:43:35+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: v4.0.0.0

http://rdf.disgenet.org/resource/nanopub/NP241204.RA9FxgHDkIDeNaY947molNNYsv3QOU0npZEB9CzV9S-A4130_assertion
type: Assertion
description: [The results describe a position effect that downregulates TRPS1 expression as the probable cause of hypertrichosis in Ambras syndrome (a rare form of congenital hypertrichosis with excessive hair on the shoulders, face and ears in humans).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/18713754
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: v4.0.0