http://rdf.disgenet.org/resource/nanopub/NP205301.RA80j1H9RNKzMQtrdd-uoXZ2uyDJGtrS0Ev6dOSY8_rC8
type: Nanopublication
created: 2016-05-13T12:43:20+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/NP205301.RA80j1H9RNKzMQtrdd-uoXZ2uyDJGtrS0Ev6dOSY8_rC8130_assertion
type: Assertion
description: [Corneal amyloidosis with an autosomal dominant mode of inheritance is characterized clinically by the presence of refractile polymorphic corneal opacities, which is caused by an A546D mutation in the TGFBI gene ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/15177960
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