http://rdf.disgenet.org/nanopublications.trig#NP16176.RAHM4m5y5foOWlgEI53ILmKPjRYoJvZsSKcPFdlpYfbhg
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#NP16176.RAHM4m5y5foOWlgEI53ILmKPjRYoJvZsSKcPFdlpYfbhg130_assertion
type: Assertion
description: [Recessive mutations in the FRAS1-related extracellular matrix 1 (FREM1) gene have been shown to cause bifid nose with or without anorectal and renal anomalies (BNAR) syndrome and Manitoba oculotrichoanal (MOTA) syndrome, but have not been previously implicated in the development of CDH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/23221805
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