http://rdf.disgenet.org/nanopublications.trig#NP16150.RAK9X4yuYibUgwgmeW8Xkgb7gwwy17U_CwlZxUlCeRQ14
type: Nanopublication
created: 2014-10-02T12:32:05+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#NP16150.RAK9X4yuYibUgwgmeW8Xkgb7gwwy17U_CwlZxUlCeRQ14130_assertion
type: Assertion
description: [We characterize 13 patients with DVD--5 with hemizygous paternal deletions spanning the FOXP2 gene, 1 with a translocation interrupting FOXP2, and the remaining 7 with maternal uniparental disomy of chromosome 7 (UPD7), who were also given a diagnosis of Silver-Russell Syndrome (SRS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/17033973
was generated by: ECO_0000218

ctd human-20130708
imported on: 2013-07-24

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

disgenetrdf
version: v2.1.0