http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y#head
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y#assertion
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y#provenance
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y#assertion
http://rdf.disgenet.org/resource/gda/DGN31e3462142ddad50d8a4533f1d0398be
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6607
http://rdf.disgenet.org/resource/gda/DGN31e3462142ddad50d8a4533f1d0398be
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0026847
http://rdf.disgenet.org/resource/gda/DGN31e3462142ddad50d8a4533f1d0398be
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y#provenance
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y#assertion
http://purl.org/dc/terms/description
[Only SMN1 homoduplex peak was detected in 2 normal individuals and the standard sample, indicating the deletion of SMN2 On the contrary, only the SMN2 homoduplex peak was detected in 22 out of 25 patients with SMA, indicating deletion of SMN1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y#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/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15952118
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y#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/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://purl.org/dc/terms/created
2017-10-17T13:16:19+02:00
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP962780.RAgVTAqMdDpTrD-O9rSGN4ackzVgvN85BCSKPY1eEAX2Y
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