@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP159262.RAG8idjyATC_mX3NE7dMeAjqOuXpGJ1hnN7zQeQqqMrR8130_head { this: np:hasAssertion dgn-np:NP159262.RAG8idjyATC_mX3NE7dMeAjqOuXpGJ1hnN7zQeQqqMrR8130_assertion; np:hasProvenance dgn-np:NP159262.RAG8idjyATC_mX3NE7dMeAjqOuXpGJ1hnN7zQeQqqMrR8130_provenance; np:hasPublicationInfo dgn-np:NP159262.RAG8idjyATC_mX3NE7dMeAjqOuXpGJ1hnN7zQeQqqMrR8130_publicationInfo; a np:Nanopublication . dgn-np:NP159262.RAG8idjyATC_mX3NE7dMeAjqOuXpGJ1hnN7zQeQqqMrR8130_assertion a np:Assertion . dgn-np:NP159262.RAG8idjyATC_mX3NE7dMeAjqOuXpGJ1hnN7zQeQqqMrR8130_provenance a np:Provenance . dgn-np:NP159262.RAG8idjyATC_mX3NE7dMeAjqOuXpGJ1hnN7zQeQqqMrR8130_publicationInfo a np:PublicationInfo . } dgn-np:NP159262.RAG8idjyATC_mX3NE7dMeAjqOuXpGJ1hnN7zQeQqqMrR8130_assertion { miriam-gene:7389 a ncit:C16612 . lld:C0242621 a ncit:C7057 . dgn-gda:DGNb7d3f333dcb9a5ba5622f848404c0c19 sio:SIO_000628 miriam-gene:7389, lld:C0242621; a sio:SIO_001121 . } dgn-np:NP159262.RAG8idjyATC_mX3NE7dMeAjqOuXpGJ1hnN7zQeQqqMrR8130_provenance { dgn-np:NP159262.RAG8idjyATC_mX3NE7dMeAjqOuXpGJ1hnN7zQeQqqMrR8130_assertion dcterms:description "[The survey found at least nine cases with segmental UPD and a normal karyotype, 22 cases with UPD of a whole chromosome and a simple or a non-homologous Robertsonian translocation, eight cases with UPD and two isochromosomes, one of the short arm and one of the long arm of a non-acrocentric chromosome, 39 cases with UPD and an isochromosome of the long arm of two homologous acrocentric chromosomes, one case of UPD and an isochromosome 8 associated with a homozygous del(8)(p23.3pter), and 21 cases with UPD of a whole or parts of a chromosome associated with a complex karyotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:11483637; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP159262.RAG8idjyATC_mX3NE7dMeAjqOuXpGJ1hnN7zQeQqqMrR8130_publicationInfo { this: dcterms:created "2014-10-02T12:33:26+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }