http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI#head
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI#assertion
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI#provenance
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI#assertion
http://rdf.disgenet.org/resource/gda/DGN0bbdfd02009b9ec19cd257658c7739a5
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/54332
http://rdf.disgenet.org/resource/gda/DGN0bbdfd02009b9ec19cd257658c7739a5
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0007959
http://rdf.disgenet.org/resource/gda/DGN0bbdfd02009b9ec19cd257658c7739a5
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI#provenance
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI#assertion
http://purl.org/dc/terms/description
[The patient with normal vocal cord and pulmonary function had a less severe clinical course.This study shows that CMT patients with GDAP1 mutations develop severe disability due to weakness of limb muscles and that laryngeal and respiratory muscle involvement occurs late in the disease process when significant proximal upper limb weakness has developed.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI#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/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/18812441
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI#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/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://purl.org/dc/terms/created
2017-10-17T13:18:34+02:00
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1319562.RAZLPhNcaXzO3Uhs2hYsjTACTt8j29nUJlq6fU460NuCI
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