http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c#head
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c#assertion
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c#provenance
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c#assertion
http://rdf.disgenet.org/resource/gda/DGN9e8c2949d36d6e1c5fd7c3b8850ec3dd
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4627
http://rdf.disgenet.org/resource/gda/DGN9e8c2949d36d6e1c5fd7c3b8850ec3dd
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C2751260
http://rdf.disgenet.org/resource/gda/DGN9e8c2949d36d6e1c5fd7c3b8850ec3dd
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c#provenance
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c#assertion
http://purl.org/dc/terms/description
[To date, 31 mutations of the MYH9 gene leading to macrothrombocytopenia have been identified, of which the upstream mutations up to amino acid approximately 1400 are more likely associated with syndromic manifestations than the downstream mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/19408192
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations inferred from text-mining the literature.
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://purl.org/dc/terms/created
2017-10-17T13:14:54+02:00
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP740506.RAU-APwTu__JdVXWOp_CwVEPtpti7xe1hiFNZ8tbvdH_c
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0