http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q#head
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q#assertion
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q#provenance
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q#assertion
http://rdf.disgenet.org/resource/gda/DGN1ae8c189b80865a829824c232d4d540c
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6638
http://rdf.disgenet.org/resource/gda/DGN1ae8c189b80865a829824c232d4d540c
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C4024957
http://rdf.disgenet.org/resource/gda/DGN1ae8c189b80865a829824c232d4d540c
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q#provenance
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q#assertion
http://purl.org/dc/terms/description
[The autosomal recessive neuromuscular disorder proximal spinal muscular atrophy (SMA) is caused by the loss or mutation of the survival motor neuron (SMN) gene, which exists in two nearly identical copies, telomeric SMN (telSMN) and centromeric SMN (cenSMN).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q#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/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9837824
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q#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/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://purl.org/dc/terms/created
2017-10-17T13:16:21+02:00
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP966544.RAj3C5rQcWIF4qjIyVJT8et-AVZbAfIncnlo73Ke3rV2Q
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