http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_head http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_assertion http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_provenance http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_assertion http://identifiers.org/ncbigene/6792 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/C0036857 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/DGN7a0a913b1af76007bc022ce243109af5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6792 http://rdf.disgenet.org/resource/gda/DGN7a0a913b1af76007bc022ce243109af5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0036857 http://rdf.disgenet.org/resource/gda/DGN7a0a913b1af76007bc022ce243109af5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_provenance http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_assertion http://purl.org/dc/terms/description [We show that STK9 is subject to X-inactivation in normal female somatic cells and is functionally absent in the two patients, because of preferential inactivation of the normal X. Disruption of the same gene in two unrelated patients who have identical phenotypes (consisting of early-onset severe infantile spasms, profound global developmental arrest, hypsarrhythmia, and severe mental retardation) strongly suggests that lack of functional STK9 protein causes severe ISSX and that STK9 is a second X-chromosomal locus for this disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_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/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12736870 http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_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/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://purl.org/dc/terms/created 2016-05-13T12:44:43+02:00 http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP393611.RARiNxkzfg0XsDcxD6vBYYl0y8pB3d86fKBLrXnQW6yMo 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