http://rdf.disgenet.org/resource/nanopub/NP724656.RAUq9tT5Hxdm_QEd7us0RQLWCn1TVA8ZB6bdbCvVYIerg
type: Nanopublication
created: 2015-08-25T14:44:57+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/NP724656.RAUq9tT5Hxdm_QEd7us0RQLWCn1TVA8ZB6bdbCvVYIerg130_assertion
type: Assertion
description: [All have similarities in appearance which we suggest could alert clinicians to the possibility of a TBX3 mutation if individuals present with more subtle features of UMS such as postaxial polydactyly, isolated 5th finger anomalies, delayed puberty in males, breast hypoplasia or short stature with or without growth hormone deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/21199695
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