http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc#head
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc#assertion
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc#provenance
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc#assertion
http://rdf.disgenet.org/resource/gda/DGN201b6a3c48e22e9a6ee043f0196b4d5a
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6638
http://rdf.disgenet.org/resource/gda/DGN201b6a3c48e22e9a6ee043f0196b4d5a
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0026847
http://rdf.disgenet.org/resource/gda/DGN201b6a3c48e22e9a6ee043f0196b4d5a
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc#provenance
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc#assertion
http://purl.org/dc/terms/description
[The molecular analysis of the survival motor neuron (SMN) gene and several closely flanking polymorphic markers in an atypical pedigree with four patients suffering from spinal muscular atrophy (SMA) over two generations has raised new aspects concerning the etiology and the molecular spectrum of autosomal recessive SMA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc#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/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/9341891
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc#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/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://purl.org/dc/terms/created
2017-10-17T13:16:21+02:00
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP966332.RAzxql9GuhsjTt22x1__WcemInzcALWHHru6_s7E2nYoc
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