http://rdf.disgenet.org/resource/nanopub/NP848778.RAsltgek2kpkHuAvRd9wmsvWiewGVSK6wYzbQoD-rAvZg
type: Nanopublication
created: 2016-05-13T12:48:09+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/NP848778.RAsltgek2kpkHuAvRd9wmsvWiewGVSK6wYzbQoD-rAvZg130_assertion
type: Assertion
description: [These include inheritance of one mutated retinoblastoma susceptibility (RB) allele as the origin of hereditary retinoblastoma, subsequent loss of the remaining allele upon the genesis of the tumour, the involvement of the same RB gene in both sporadic and hereditary retinoblastoma, the somatic mutation of both RB alleles in sporadic retinoblastoma, the lack of evidence for expression of a normal RB gene product in any retinoblastoma yet examined, the inactivational nature of RB mutations and the recessiveness of these mutated alleles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/2101724
was generated by: ECO_0000203

befree-2016
imported on: 2016-02-19

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

disgenetv3.0rdf
version: v4.0.0