http://rdf.disgenet.org/resource/nanopub/NP635092.RAwS6IGduNOF4IQDscnnS7vbEia9ZcQ6zDjx-PIrEu0es
type: Nanopublication
created: 2016-05-13T12:46:33+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/NP635092.RAwS6IGduNOF4IQDscnnS7vbEia9ZcQ6zDjx-PIrEu0es130_assertion
type: Assertion
description: [Type 1 von Willebrand disease can be divided into three groups where (1) fully penetrant VWF mutations appear sufficient to explain the low plasma von Willebrand factor and bleeding, (2) VWF mutation may act as a risk factor for bleeding in combination with blood group O and/other unknown genetic factors, and (3) classic VWF mutations are absent but VWF may still play a role in some cases and blood group O is common.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/17934350
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