http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_head http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_assertion http://identifiers.org/ncbigene/146059 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/C0000768 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/DGN4d7c0a751b7dbc436b3500c1d05aae3c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/146059 http://rdf.disgenet.org/resource/gda/DGN4d7c0a751b7dbc436b3500c1d05aae3c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0000768 http://rdf.disgenet.org/resource/gda/DGN4d7c0a751b7dbc436b3500c1d05aae3c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_assertion http://purl.org/dc/terms/description [Molecular studies have confirmed that it is a heterogeneous disorder and there may be evidence for an autosomal recessive mode of inheritance.1 The gene responsible for Noonan' syndrome has been mapped to the long arm of chromosome 12.2,3 The human deltex gene (DLT x 1), mapping to chromosomal region 12q24 in the vicinity of the Noonan's syndrome critical region is being evaluated as a candidate gene for this disorder.4 Various types of musculoskeletal abnormalities have been reported, including short stature, craniofacial dysmorphism, short or webbed neck and fetal pads in fingers and toes.5 We report five cases with the unusual physical features of overriding toes and simian creases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_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/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12354273 http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_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/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://purl.org/dc/terms/created 2016-05-13T12:44:32+02:00 http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP369230.RA0b5Ld02-oYdiLoR4NCQ0NrQ-tdrTHOYHkGGQQcl96xQ 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