http://rdf.disgenet.org/nanopublications.trig#NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM
type: Nanopublication
created: 2014-10-02T12:36:40+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#NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_assertion
type: Assertion
description: [Although missense and nonsense mutations in KERA are associated with CNA2, we did not identify any of the previously described mutations or novel mutations that segregated with the disease phenotype in a family with CNA1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17558846
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