http://rdf.disgenet.org/nanopublications.trig#NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs
type: Nanopublication
created: 2014-10-02T12:32:00+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#NP6466.RAKT9p06lnp9e-ny5hCkhJGtHzIwmyUg2N9l6HxE9qoMs130_assertion
type: Assertion
description: [The present identification of heterozygous TBX4 mutations in SPS patients, together with the similar skeletal phenotype of animals lacking Tbx4, establish the importance of TBX4 in the developmental pathways of the lower limbs and the pelvis in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/15106123
was generated by: ECO_0000218

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

uniprot-20130724
imported on: 2013-07-24

disgenetrdf
version: v2.1.0