http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE#head
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE#assertion
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE#provenance
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE#assertion
http://rdf.disgenet.org/resource/gda/DGN5d601571a3ab27058616f716e98a51b4
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1947
http://rdf.disgenet.org/resource/gda/DGN5d601571a3ab27058616f716e98a51b4
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0010278
http://rdf.disgenet.org/resource/gda/DGN5d601571a3ab27058616f716e98a51b4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE#provenance
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE#assertion
http://purl.org/dc/terms/description
[The most common genetic mutations identified in syndromic craniosynostosis involve the fibroblast growth factor receptor (FGFR) family with other mutations occurring in genes for transcription factors TWIST, MSX2, and GLI3, and other proteins EFNB1, RAB23, RECQL4, and POR, presumed to be involved either upstream or downstream of the FGFR signaling pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE#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/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/21082653
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE#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/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://purl.org/dc/terms/created
2017-10-17T13:12:09+02:00
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP311393.RARqd1onWp26mXHntwod-aT7BNAw7rqlR1cs_7xrjF6tE
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