http://rdf.disgenet.org/resource/nanopub/NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U
type: Nanopublication
created: 2016-05-13T12:41:54+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: v4.0.0.0

http://rdf.disgenet.org/resource/nanopub/NP9519.RA096Oe_22z5Avac_OA4WOAhZd_yCX-nvozXRbaX2mT2U130_assertion
type: Assertion
description: [We conclude that there is a reduced risk of mental retardation in TSC1 as opposed to TSC2 disease and that consequent ascertainment bias, at least in part, explains the relative paucity of TSC1 mutations in sporadic TSC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/9328481
was generated by: ECO_0000218

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

uniprot-2016
imported on: 2016-01-25

disgenetv3.0rdf
version: v4.0.0