Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP613.RAeJTzZ5LS_u7oT-e4HmbNqZzwuLi1pgO9Jk43ubnn8qY130_assertion> ?p ?o ?g. }
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- NP613.RAeJTzZ5LS_u7oT-e4HmbNqZzwuLi1pgO9Jk43ubnn8qY130_assertion type Assertion NP613.RAeJTzZ5LS_u7oT-e4HmbNqZzwuLi1pgO9Jk43ubnn8qY130_head.
- NP613.RAeJTzZ5LS_u7oT-e4HmbNqZzwuLi1pgO9Jk43ubnn8qY130_assertion description "[Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP613.RAeJTzZ5LS_u7oT-e4HmbNqZzwuLi1pgO9Jk43ubnn8qY130_provenance.
- NP613.RAeJTzZ5LS_u7oT-e4HmbNqZzwuLi1pgO9Jk43ubnn8qY130_assertion evidence source_evidence_curated NP613.RAeJTzZ5LS_u7oT-e4HmbNqZzwuLi1pgO9Jk43ubnn8qY130_provenance.
- NP613.RAeJTzZ5LS_u7oT-e4HmbNqZzwuLi1pgO9Jk43ubnn8qY130_assertion SIO_000772 10655546 NP613.RAeJTzZ5LS_u7oT-e4HmbNqZzwuLi1pgO9Jk43ubnn8qY130_provenance.
- NP613.RAeJTzZ5LS_u7oT-e4HmbNqZzwuLi1pgO9Jk43ubnn8qY130_assertion wasDerivedFrom uniprot-2016 NP613.RAeJTzZ5LS_u7oT-e4HmbNqZzwuLi1pgO9Jk43ubnn8qY130_provenance.
- NP613.RAeJTzZ5LS_u7oT-e4HmbNqZzwuLi1pgO9Jk43ubnn8qY130_assertion wasGeneratedBy ECO_0000218 NP613.RAeJTzZ5LS_u7oT-e4HmbNqZzwuLi1pgO9Jk43ubnn8qY130_provenance.