http://rdf.disgenet.org/nanopublications.trig#NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0
type: Nanopublication
created: 2014-10-02T12:31:58+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#NP582.RAET2Or4yTnLIz6dLQPfpwwywCd78LD0eIzTxXoj9VcN0130_assertion
type: Assertion
description: [This study demonstrates that defects in ATP2C1 cause HHD and together with the recent identification of ATP2A2 as the defective gene in Darier's disease, provide further evidence of the critical role of Ca(2+)signaling in maintaining epidermal integrity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/10767338
was generated by: ECO_0000218

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

uniprot-20130724
imported on: 2013-07-24

disgenetrdf
version: v2.1.0