Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_assertion> ?p ?o ?g. }
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- NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_assertion type Assertion NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_head.
- NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_assertion description "[Although missense and nonsense mutations in KERA are associated with CNA2, we did not identify any of the previously described mutations or novel mutations that segregated with the disease phenotype in a family with CNA1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_provenance.
- NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_assertion evidence source_evidence_literature NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_provenance.
- NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_assertion SIO_000772 17558846 NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_provenance.
- NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_assertion wasDerivedFrom befree-20140225 NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_provenance.
- NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_assertion wasGeneratedBy ECO_0000203 NP467765.RAp-bP9IF6zZ-suly1GyQhJ1KZUPFNsCCY0HRjGEzn5bM130_provenance.