@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:NP393775.RAb8vzR9Vagv-g7ueAgPJ6lIAdDrcmtiQf65t1omXscJ4130_head { this: np:hasAssertion dgn-np:NP393775.RAb8vzR9Vagv-g7ueAgPJ6lIAdDrcmtiQf65t1omXscJ4130_assertion; np:hasProvenance dgn-np:NP393775.RAb8vzR9Vagv-g7ueAgPJ6lIAdDrcmtiQf65t1omXscJ4130_provenance; np:hasPublicationInfo dgn-np:NP393775.RAb8vzR9Vagv-g7ueAgPJ6lIAdDrcmtiQf65t1omXscJ4130_publicationInfo; a np:Nanopublication . dgn-np:NP393775.RAb8vzR9Vagv-g7ueAgPJ6lIAdDrcmtiQf65t1omXscJ4130_assertion a np:Assertion . dgn-np:NP393775.RAb8vzR9Vagv-g7ueAgPJ6lIAdDrcmtiQf65t1omXscJ4130_provenance a np:Provenance . dgn-np:NP393775.RAb8vzR9Vagv-g7ueAgPJ6lIAdDrcmtiQf65t1omXscJ4130_publicationInfo a np:PublicationInfo . } dgn-np:NP393775.RAb8vzR9Vagv-g7ueAgPJ6lIAdDrcmtiQf65t1omXscJ4130_assertion { miriam-gene:3040 a ncit:C16612 . lld:C0878520 a ncit:C7057 . dgn-gda:DGN5abbec738f6500f7f8311eb4337a2d01 sio:SIO_000628 miriam-gene:3040, lld:C0878520; a sio:SIO_001121 . } dgn-np:NP393775.RAb8vzR9Vagv-g7ueAgPJ6lIAdDrcmtiQf65t1omXscJ4130_provenance { dgn-np:NP393775.RAb8vzR9Vagv-g7ueAgPJ6lIAdDrcmtiQf65t1omXscJ4130_assertion dcterms:description "[The classical phenotype of heterozygous beta-thalassemia may be modified by a number of environmental and genetic interacting factors--among which the most relevant are: (1) coinheritance of alpha-thalassemia, which may normalize the red blood cell indices; (2) the presence of a mild beta-thalassemia mutation; (3) cotransmission of delta-thalassemia which may reduce the increase of HbA2 typical of heterozygous beta-thalassemia to normal values and (4) the presence of a silent mutation which can be defined only by imbalanced beta-globin chain synthesis.]. 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:8205005; 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:NP393775.RAb8vzR9Vagv-g7ueAgPJ6lIAdDrcmtiQf65t1omXscJ4130_publicationInfo { this: dcterms:created "2014-10-02T12:35:54+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" . }