http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_head http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_assertion http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_assertion http://identifiers.org/ncbigene/1244 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/C0022350 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/DGNc5b7af6ccd520a0f26da3ef1c98a7a2f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1244 http://rdf.disgenet.org/resource/gda/DGNc5b7af6ccd520a0f26da3ef1c98a7a2f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0022350 http://rdf.disgenet.org/resource/gda/DGNc5b7af6ccd520a0f26da3ef1c98a7a2f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_assertion http://purl.org/dc/terms/description [One mutation, 3517A-->T, predicting a I1173F substitution, was found in 22 homozygous Iranian Jewish DJS patients from 13 unrelated families and a second mutation, 3449G-->A, predicting a R1150H substitution, was found in 5 homozygous Moroccan Jewish DJS patients from 4 unrelated families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_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/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11477083 http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/uniprot-2016 http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_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/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://purl.org/dc/terms/created 2016-05-13T12:41:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1554.RAiWmD6jcjjzFXwXGyqwkKghAIBsMV9UYZy8F5Nr9WTDo 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