http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_head http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion http://identifiers.org/ncbigene/5781 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/C0014084 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/gene-disease-association.ttl#DGN9627bd2c1f6c574079d51413251bf854 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5781 http://rdf.disgenet.org/gene-disease-association.ttl#DGN9627bd2c1f6c574079d51413251bf854 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014084 http://rdf.disgenet.org/gene-disease-association.ttl#DGN9627bd2c1f6c574079d51413251bf854 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion http://purl.org/dc/terms/description [We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a `second hit,` that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21533187 http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#ctd_human-20130708 http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000218 http://rdf.disgenet.org/v2.1.0/void.ttl#ctd_human-20130708 http://purl.org/pav/2.0/importedOn 2013-07-24 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000205 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://purl.org/dc/terms/created 2014-10-02T12:32:11+02:00 http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP27907.RAmgGpli3TFy30AMuos4o5v9cfv7c6sst5z_DhvKVuUTo http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0