@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:NP365119.RAuc1terxapw45fahZ0_QXnoyc2FpJd-FQLGUpERebzwQ130_head { this: np:hasAssertion dgn-np:NP365119.RAuc1terxapw45fahZ0_QXnoyc2FpJd-FQLGUpERebzwQ130_assertion; np:hasProvenance dgn-np:NP365119.RAuc1terxapw45fahZ0_QXnoyc2FpJd-FQLGUpERebzwQ130_provenance; np:hasPublicationInfo dgn-np:NP365119.RAuc1terxapw45fahZ0_QXnoyc2FpJd-FQLGUpERebzwQ130_publicationInfo; a np:Nanopublication . dgn-np:NP365119.RAuc1terxapw45fahZ0_QXnoyc2FpJd-FQLGUpERebzwQ130_assertion a np:Assertion . dgn-np:NP365119.RAuc1terxapw45fahZ0_QXnoyc2FpJd-FQLGUpERebzwQ130_provenance a np:Provenance . dgn-np:NP365119.RAuc1terxapw45fahZ0_QXnoyc2FpJd-FQLGUpERebzwQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP365119.RAuc1terxapw45fahZ0_QXnoyc2FpJd-FQLGUpERebzwQ130_assertion { miriam-gene:23418 a ncit:C16612 . lld:C0339527 a ncit:C7057 . dgn-gda:DGNba3b2802c2c18b81e2e8aa1dfb3ac189 sio:SIO_000628 miriam-gene:23418, lld:C0339527; a sio:SIO_001121 . } dgn-np:NP365119.RAuc1terxapw45fahZ0_QXnoyc2FpJd-FQLGUpERebzwQ130_provenance { dgn-np:NP365119.RAuc1terxapw45fahZ0_QXnoyc2FpJd-FQLGUpERebzwQ130_assertion dcterms:description "[This paper reviews the new finding of LCA from mutations of CRB1 and discusses the molecular basis of X-linked blue monochromacy, autosomal recessive congenital achromatopsia from mutations of the genes for ACHM2 (CNGA3) and ACHM3 (CNGB3), X-linked congenital stationary night blindness (CSNB) from mutations of CACNA1F (incomplete CSNB) and NYX (complete CSNB), and the enhanced S-cone syndrome from mutation of the developmental gene, NR2E3 at 15q23, which appears to regulate the development of M- and L-cones from S-cones.]. 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:12187427; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP365119.RAuc1terxapw45fahZ0_QXnoyc2FpJd-FQLGUpERebzwQ130_publicationInfo { this: dcterms:created "2016-05-13T12:44:31+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }