http://rdf.disgenet.org/resource/nanopub/NP81610.RA_8bTbotKeMogk97rwIlCYNi-E5HRy9DXT9x2GtnMoK0
type: Nanopublication
created: 2016-05-13T12:42:25+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/NP81610.RA_8bTbotKeMogk97rwIlCYNi-E5HRy9DXT9x2GtnMoK0130_assertion
type: Assertion
description: [There was a marked overrepresentation of severe alleles in patients carrying the 1604A mutation, suggesting that many patients who are compound heterozygotes for 1604A are not diagnosed as having Gaucher disease because their disease is presumably so mild]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12972024
was generated by: ECO_0000203

gad-20150221
imported on: 2015-02-21

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

disgenetv3.0rdf
version: v4.0.0