Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP419050.RAzhu0fEFnmpzJTCRUeq8F66MoBxITudXBpLyp13ViBVs130_assertion> ?p ?o ?g. }
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- NP419050.RAzhu0fEFnmpzJTCRUeq8F66MoBxITudXBpLyp13ViBVs130_assertion type Assertion NP419050.RAzhu0fEFnmpzJTCRUeq8F66MoBxITudXBpLyp13ViBVs130_head.
- NP419050.RAzhu0fEFnmpzJTCRUeq8F66MoBxITudXBpLyp13ViBVs130_assertion description "[Substitution of arginine for leucine at position 569 of the TGFBI gene results in a form of lattice corneal dystrophy that is phenotypically similar to other genetically distinct forms of type I disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP419050.RAzhu0fEFnmpzJTCRUeq8F66MoBxITudXBpLyp13ViBVs130_provenance.
- NP419050.RAzhu0fEFnmpzJTCRUeq8F66MoBxITudXBpLyp13ViBVs130_assertion evidence source_evidence_literature NP419050.RAzhu0fEFnmpzJTCRUeq8F66MoBxITudXBpLyp13ViBVs130_provenance.
- NP419050.RAzhu0fEFnmpzJTCRUeq8F66MoBxITudXBpLyp13ViBVs130_assertion SIO_000772 14597039 NP419050.RAzhu0fEFnmpzJTCRUeq8F66MoBxITudXBpLyp13ViBVs130_provenance.
- NP419050.RAzhu0fEFnmpzJTCRUeq8F66MoBxITudXBpLyp13ViBVs130_assertion wasDerivedFrom befree-2016 NP419050.RAzhu0fEFnmpzJTCRUeq8F66MoBxITudXBpLyp13ViBVs130_provenance.
- NP419050.RAzhu0fEFnmpzJTCRUeq8F66MoBxITudXBpLyp13ViBVs130_assertion wasGeneratedBy ECO_0000203 NP419050.RAzhu0fEFnmpzJTCRUeq8F66MoBxITudXBpLyp13ViBVs130_provenance.