Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP419051.RAdiiHHiZPLr6sie0rvsDH4iq-DgaN9hJHssCD4qZmMNw130_assertion> ?p ?o ?g. }
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- NP419051.RAdiiHHiZPLr6sie0rvsDH4iq-DgaN9hJHssCD4qZmMNw130_assertion type Assertion NP419051.RAdiiHHiZPLr6sie0rvsDH4iq-DgaN9hJHssCD4qZmMNw130_head.
- NP419051.RAdiiHHiZPLr6sie0rvsDH4iq-DgaN9hJHssCD4qZmMNw130_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." NP419051.RAdiiHHiZPLr6sie0rvsDH4iq-DgaN9hJHssCD4qZmMNw130_provenance.
- NP419051.RAdiiHHiZPLr6sie0rvsDH4iq-DgaN9hJHssCD4qZmMNw130_assertion evidence source_evidence_literature NP419051.RAdiiHHiZPLr6sie0rvsDH4iq-DgaN9hJHssCD4qZmMNw130_provenance.
- NP419051.RAdiiHHiZPLr6sie0rvsDH4iq-DgaN9hJHssCD4qZmMNw130_assertion SIO_000772 14597039 NP419051.RAdiiHHiZPLr6sie0rvsDH4iq-DgaN9hJHssCD4qZmMNw130_provenance.
- NP419051.RAdiiHHiZPLr6sie0rvsDH4iq-DgaN9hJHssCD4qZmMNw130_assertion wasDerivedFrom befree-2016 NP419051.RAdiiHHiZPLr6sie0rvsDH4iq-DgaN9hJHssCD4qZmMNw130_provenance.
- NP419051.RAdiiHHiZPLr6sie0rvsDH4iq-DgaN9hJHssCD4qZmMNw130_assertion wasGeneratedBy ECO_0000203 NP419051.RAdiiHHiZPLr6sie0rvsDH4iq-DgaN9hJHssCD4qZmMNw130_provenance.