http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_head http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_assertion http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_provenance http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_assertion http://identifiers.org/ncbigene/6442 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C2936332 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNae4999fe40debbd627f12241d81546ce http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6442 http://rdf.disgenet.org/resource/gda/DGNae4999fe40debbd627f12241d81546ce http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2936332 http://rdf.disgenet.org/resource/gda/DGNae4999fe40debbd627f12241d81546ce http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_provenance http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_assertion http://purl.org/dc/terms/description [We have examined the importance of primary adhalinopathies among myopathies with adhalin deficiency, and describe several additional mutations (null and missense) in the adhalin gene in 10 new families from Europe and North Africa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7663524 http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/uniprot-2016 http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/v4.0.0/void/uniprot-2016 http://purl.org/pav/importedOn 2016-01-25 http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://purl.org/dc/terms/created 2016-05-13T12:41:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP8415.RAky2JvlHxWHX5cQ95S6jeikW-YnZilGndqIbEYH7Euk0 http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0