Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP371636.RAtTFDM7VTGRcKlU_4adNAzuOpkel1VrZ9haRmajyznSw130_assertion> ?p ?o ?g. }
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- NP371636.RAtTFDM7VTGRcKlU_4adNAzuOpkel1VrZ9haRmajyznSw130_assertion type Assertion NP371636.RAtTFDM7VTGRcKlU_4adNAzuOpkel1VrZ9haRmajyznSw130_head.
- NP371636.RAtTFDM7VTGRcKlU_4adNAzuOpkel1VrZ9haRmajyznSw130_assertion description "[We report a novel congenital cataract causing mutation c.1751C>T in the EPHA2 gene and the previously reported splice mutation c.2826-9G>A in two new families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP371636.RAtTFDM7VTGRcKlU_4adNAzuOpkel1VrZ9haRmajyznSw130_provenance.
- NP371636.RAtTFDM7VTGRcKlU_4adNAzuOpkel1VrZ9haRmajyznSw130_assertion evidence source_evidence_literature NP371636.RAtTFDM7VTGRcKlU_4adNAzuOpkel1VrZ9haRmajyznSw130_provenance.
- NP371636.RAtTFDM7VTGRcKlU_4adNAzuOpkel1VrZ9haRmajyznSw130_assertion SIO_000772 24014202 NP371636.RAtTFDM7VTGRcKlU_4adNAzuOpkel1VrZ9haRmajyznSw130_provenance.
- NP371636.RAtTFDM7VTGRcKlU_4adNAzuOpkel1VrZ9haRmajyznSw130_assertion wasDerivedFrom befree-20150227 NP371636.RAtTFDM7VTGRcKlU_4adNAzuOpkel1VrZ9haRmajyznSw130_provenance.
- NP371636.RAtTFDM7VTGRcKlU_4adNAzuOpkel1VrZ9haRmajyznSw130_assertion wasGeneratedBy ECO_0000203 NP371636.RAtTFDM7VTGRcKlU_4adNAzuOpkel1VrZ9haRmajyznSw130_provenance.