Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP483317.RA2o1PbxGvelkN44Kp_EI9DXekGcOCPWzAret5dquRiO8130_assertion> ?p ?o ?g. }
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- NP483317.RA2o1PbxGvelkN44Kp_EI9DXekGcOCPWzAret5dquRiO8130_assertion type Assertion NP483317.RA2o1PbxGvelkN44Kp_EI9DXekGcOCPWzAret5dquRiO8130_head.
- NP483317.RA2o1PbxGvelkN44Kp_EI9DXekGcOCPWzAret5dquRiO8130_assertion description "[Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP483317.RA2o1PbxGvelkN44Kp_EI9DXekGcOCPWzAret5dquRiO8130_provenance.
- NP483317.RA2o1PbxGvelkN44Kp_EI9DXekGcOCPWzAret5dquRiO8130_assertion evidence source_evidence_literature NP483317.RA2o1PbxGvelkN44Kp_EI9DXekGcOCPWzAret5dquRiO8130_provenance.
- NP483317.RA2o1PbxGvelkN44Kp_EI9DXekGcOCPWzAret5dquRiO8130_assertion SIO_000772 15740668 NP483317.RA2o1PbxGvelkN44Kp_EI9DXekGcOCPWzAret5dquRiO8130_provenance.
- NP483317.RA2o1PbxGvelkN44Kp_EI9DXekGcOCPWzAret5dquRiO8130_assertion wasDerivedFrom befree-2016 NP483317.RA2o1PbxGvelkN44Kp_EI9DXekGcOCPWzAret5dquRiO8130_provenance.
- NP483317.RA2o1PbxGvelkN44Kp_EI9DXekGcOCPWzAret5dquRiO8130_assertion wasGeneratedBy ECO_0000203 NP483317.RA2o1PbxGvelkN44Kp_EI9DXekGcOCPWzAret5dquRiO8130_provenance.