http://rdf.disgenet.org/resource/nanopub/NP4081.RAsFSK6C1D7cdZYHUS9wg8nobAOnurbmu8JwWRlr5Gfpk
type: Nanopublication
created: 2016-05-13T12:41:51+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/NP4081.RAsFSK6C1D7cdZYHUS9wg8nobAOnurbmu8JwWRlr5Gfpk130_assertion
type: Assertion
description: [In the current literature, 19 IBS families with keratin 2e (K2e) mutations have been reported, despite only five IBS families having been reported before the first identification of K2e mutation in 1994.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/15949009
was generated by: ECO_0000218

DisGeNET evidence - CURATED
type: ECO_0000205
comment: Gene-disease associations manually curated.

uniprot-2016
imported on: 2016-01-25

disgenetv3.0rdf
version: v4.0.0