http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc#head http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc#assertion http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc#provenance http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc#assertion http://rdf.disgenet.org/resource/gda/DGN36accdba6d757f93807e0a46987283c5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3508 http://rdf.disgenet.org/resource/gda/DGN36accdba6d757f93807e0a46987283c5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0393541 http://rdf.disgenet.org/resource/gda/DGN36accdba6d757f93807e0a46987283c5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc#provenance http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc#assertion http://purl.org/dc/terms/description [The sequencing of IGHMBP2, the human homologue of the mouse neuromuscular degeneration gene (nmd) that accounts for spinal muscular atrophy with respiratory distress, failed to detect any mutation in our chronic distal spinal muscular atrophy patients, suggesting that spinal muscular atrophy with respiratory distress and chronic distal spinal muscular atrophy are caused by distinct genes located in the same chromosomal region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc#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/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12112104 http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc#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/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://purl.org/dc/terms/created 2017-10-17T13:13:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP553385.RAEauFmBms80nhv42O12W_QNfqwy_6zlnxv1oyHHOiGtc 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