Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP859637.RAsi4AuJUJDi4q9V0kkl54h2ZZjpFM0AuqF7YzDHlj6gs130_assertion> ?p ?o ?g. }
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- NP859637.RAsi4AuJUJDi4q9V0kkl54h2ZZjpFM0AuqF7YzDHlj6gs130_assertion type Assertion NP859637.RAsi4AuJUJDi4q9V0kkl54h2ZZjpFM0AuqF7YzDHlj6gs130_head.
- NP859637.RAsi4AuJUJDi4q9V0kkl54h2ZZjpFM0AuqF7YzDHlj6gs130_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." NP859637.RAsi4AuJUJDi4q9V0kkl54h2ZZjpFM0AuqF7YzDHlj6gs130_provenance.
- NP859637.RAsi4AuJUJDi4q9V0kkl54h2ZZjpFM0AuqF7YzDHlj6gs130_assertion evidence source_evidence_literature NP859637.RAsi4AuJUJDi4q9V0kkl54h2ZZjpFM0AuqF7YzDHlj6gs130_provenance.
- NP859637.RAsi4AuJUJDi4q9V0kkl54h2ZZjpFM0AuqF7YzDHlj6gs130_assertion SIO_000772 17558846 NP859637.RAsi4AuJUJDi4q9V0kkl54h2ZZjpFM0AuqF7YzDHlj6gs130_provenance.
- NP859637.RAsi4AuJUJDi4q9V0kkl54h2ZZjpFM0AuqF7YzDHlj6gs130_assertion wasDerivedFrom befree-20150227 NP859637.RAsi4AuJUJDi4q9V0kkl54h2ZZjpFM0AuqF7YzDHlj6gs130_provenance.
- NP859637.RAsi4AuJUJDi4q9V0kkl54h2ZZjpFM0AuqF7YzDHlj6gs130_assertion wasGeneratedBy ECO_0000203 NP859637.RAsi4AuJUJDi4q9V0kkl54h2ZZjpFM0AuqF7YzDHlj6gs130_provenance.