NP924369.RACgbKMJkH-1hLxotM PbK8TqdN sO5cot-gvmYZjfFVA
has assertion: NP924369.RACgbKMJkH-1hLxotM PbK8TqdN sO5cot-gvmYZjfFVA130 assertion
has provenance: NP924369.RACgbKMJkH-1hLxotM PbK8TqdN sO5cot-gvmYZjfFVA130 provenance
has publication info: NP924369.RACgbKMJkH-1hLxotM PbK8TqdN sO5cot-gvmYZjfFVA130 publicationInfo
type: Nanopublication
created: 2014-10-02T12:41:27+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

NP924369.RACgbKMJkH-1hLxotM PbK8TqdN sO5cot-gvmYZjfFVA130 assertion
type: Assertion
description: [We hypothesize that the urogenital and anorectal malformations in the patient result from one or several mechanisms including disruption of the genes 182-FIP and LHFPL5, altered expression of the genes flanking the translocation breakpoints and, a gain of function mechanism mediated by the 182-FIP-LHFPL5 fusion transcript.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16395596
was generated by: ECO_0000203

befree-20140225
imported on: 2014-02-25

DisGeNET evidence - LITERATURE
type: ECO_0000212
comment: Gene-disease associations inferred from text-mining the literature.

disgenetrdf
version: v2.1.0