http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc#head
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc#assertion
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc#provenance
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc#assertion
http://rdf.disgenet.org/resource/gda/DGN57c8c8df81d030558e25ef716789f45d
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1144
http://rdf.disgenet.org/resource/gda/DGN57c8c8df81d030558e25ef716789f45d
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0027868
http://rdf.disgenet.org/resource/gda/DGN57c8c8df81d030558e25ef716789f45d
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc#provenance
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc#assertion
http://purl.org/dc/terms/description
[Within this cohort, mutations were found in eight previously known neuromuscular disease genes (CHRND, CHNRG, ECEL1, GBE1, MTM1, MYH3, NEB and RYR1) and four novel neuromuscular disease genes were identified and have been published as separate reports (GPR126, KLHL40, KLHL41 and SPEG).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc#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/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26578207
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc#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/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://purl.org/dc/terms/created
2017-10-17T13:11:34+02:00
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP216523.RA7VXgW1mR-vdjOaS5Si2MK9jSK3J86jBeTg3rheD6lLc
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