Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_assertion> ?p ?o ?g. }
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- NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_assertion type Assertion NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_head.
- NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_assertion description "[A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.
- NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_assertion evidence source_evidence_curated NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.
- NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_assertion SIO_000772 14597039 NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.
- NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_assertion wasDerivedFrom uniprot-2016 NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.
- NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_assertion wasGeneratedBy ECO_0000218 NP3080.RAu2PvDLdA578zZI-ZYLgFMVfnUx4rlBwkITEkf51Vjso130_provenance.