http://rdf.disgenet.org/resource/nanopub/NP619465.RATNGBCTZn6fpMAuCrkH_3Y5qO3sU9h5I-MrOXX1RbCMQ
type: Nanopublication
created: 2016-05-13T12:46:26+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/NP619465.RATNGBCTZn6fpMAuCrkH_3Y5qO3sU9h5I-MrOXX1RbCMQ130_assertion
type: Assertion
description: [Since two of the four cases presented with choanal atresia, large deletions including SALL4 should be considered in the differential diagnosis of children with suspected CHARGE syndrome but without detectable CHD7 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17623483
was generated by: ECO_0000203

befree-2016
imported on: 2016-02-19

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

disgenetv3.0rdf
version: v4.0.0