http://rdf.disgenet.org/nanopublications.trig#NP534905.RAolbpN03vb0pg4tsdyDp22V-Butlw1nwDQzEnFofwuA8
type: Nanopublication
created: 2014-10-02T12:37:23+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#NP534905.RAolbpN03vb0pg4tsdyDp22V-Butlw1nwDQzEnFofwuA8130_assertion
type: Assertion
description: [Although some early studies suggested a role for the PTCH gene on chromosome 9q22.3 in the etiopathogenesis of MFT, recent studies of occasional patients with the MFT clinical phenotype identified mutations in the CYLD gene on chromosome 16q12-q13, a gene responsible for BSS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21389835
was generated by: ECO_0000203

befree-20140225
imported on: 2014-02-25

DisGeNET evidence - LITERATURE
type: ECO_0000212
comment: Gene-disease associations inferred from text-mining the literature.

disgenetrdf
version: v2.1.0