http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_head http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_assertion http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_provenance http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_assertion http://identifiers.org/ncbigene/6654 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/C0878544 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/DGNaa8583c452f081d82707bbd4cf8889aa http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6654 http://rdf.disgenet.org/resource/gda/DGNaa8583c452f081d82707bbd4cf8889aa http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0878544 http://rdf.disgenet.org/resource/gda/DGNaa8583c452f081d82707bbd4cf8889aa http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_provenance http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_assertion http://purl.org/dc/terms/description [Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22585553 http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://purl.org/dc/terms/created 2016-05-13T12:49:10+02:00 http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP982201.RAR9zgE0Ok4BlImEdiWHG-O0nxSKTU4MSPXNFP7abhJDY 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