http://rdf.disgenet.org/nanopublications.trig#NP9486.RAMC337YYquxgIdsozcs584tavYLIWlZovzYSqIZUHI-U
type: Nanopublication
created: 2014-10-02T12:32:02+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#NP9486.RAMC337YYquxgIdsozcs584tavYLIWlZovzYSqIZUHI-U130_assertion
type: Assertion
description: [Detailed comparison of the clinical characteristics and the function of the genes located in the commonly duplicated regions of these patients led us to the hypothesis that an increased dosage of ATRX and perhaps of other genes is involved in the pathogenetic mechanism of this XLMR phenotype, including mental retardation, short stature, and genital abnormalities comprising cryptorchidism and/or a small penis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/19291773
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