Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP171.RAcbDqzNoH-eu0VA6lZ0XvNqmI7GhcFmULSbP-jWQjDzA130_assertion> ?p ?o ?g. }
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- NP171.RAcbDqzNoH-eu0VA6lZ0XvNqmI7GhcFmULSbP-jWQjDzA130_assertion type Assertion NP171.RAcbDqzNoH-eu0VA6lZ0XvNqmI7GhcFmULSbP-jWQjDzA130_head.
- NP171.RAcbDqzNoH-eu0VA6lZ0XvNqmI7GhcFmULSbP-jWQjDzA130_assertion description "[A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP171.RAcbDqzNoH-eu0VA6lZ0XvNqmI7GhcFmULSbP-jWQjDzA130_provenance.
- NP171.RAcbDqzNoH-eu0VA6lZ0XvNqmI7GhcFmULSbP-jWQjDzA130_assertion evidence source_evidence_curated NP171.RAcbDqzNoH-eu0VA6lZ0XvNqmI7GhcFmULSbP-jWQjDzA130_provenance.
- NP171.RAcbDqzNoH-eu0VA6lZ0XvNqmI7GhcFmULSbP-jWQjDzA130_assertion SIO_000772 16773128 NP171.RAcbDqzNoH-eu0VA6lZ0XvNqmI7GhcFmULSbP-jWQjDzA130_provenance.
- NP171.RAcbDqzNoH-eu0VA6lZ0XvNqmI7GhcFmULSbP-jWQjDzA130_assertion wasDerivedFrom uniprot-20130724 NP171.RAcbDqzNoH-eu0VA6lZ0XvNqmI7GhcFmULSbP-jWQjDzA130_provenance.
- NP171.RAcbDqzNoH-eu0VA6lZ0XvNqmI7GhcFmULSbP-jWQjDzA130_assertion wasGeneratedBy ECO_0000218 NP171.RAcbDqzNoH-eu0VA6lZ0XvNqmI7GhcFmULSbP-jWQjDzA130_provenance.