http://rdf.disgenet.org/resource/nanopub/NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII
type: Nanopublication
created: 2015-08-25T14:44:24+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: v3.0.0.0

http://rdf.disgenet.org/resource/nanopub/NP672352.RAewTc5QGF1SP5rsiw7qFS7NYq7HSJ8Jyld85EQAyYNII130_assertion
type: Assertion
description: [We report on a 12-year-old girl with a new mutation of the RMRP gene and a severe multisystemic CHH (hematological and pulmonary lesions, severe immune deficiency, arthritis, pancreatic insufficiency, malabsorption, chronic diarrhea) receiving parenteral nutrition who presented with acute symptomatic hypocalcemia and hypercalciuria associated with the presence of autoantibodies directed against the calcium-sensor receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/19626344
was generated by: ECO_0000203

befree-20150227
imported on: 2015-02-27

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

disgenetv3.0rdf
version: v3.0.0