http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_head http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_assertion http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_provenance http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_assertion http://identifiers.org/ncbigene/2335 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/C0085110 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/DGNd1956363078be30469d1b9ea19df2618 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2335 http://rdf.disgenet.org/resource/gda/DGNd1956363078be30469d1b9ea19df2618 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0085110 http://rdf.disgenet.org/resource/gda/DGNd1956363078be30469d1b9ea19df2618 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_provenance http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_assertion http://purl.org/dc/terms/description [We report here that a homozygous 6-bp deletion in the gene encoding CD45 (PTPRC, gene map locus 1q31-32), which results in a loss of glutamic acid 339 and tyrosine 340 in the first fibronectin type III module of the extracellular domain of CD45, is associated with failure of surface expression of CD45 and SCID.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11145714 http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://purl.org/dc/terms/created 2015-08-25T14:41:38+02:00 http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP409811.RAjHenBP5QsYK-j889eGzsfkpyZ45m5kK_8I5pz7YSpto http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0