Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP385876.RAAa7umuoJ06o5Hr2j580q0y0QGdPl6qMWhppbJti0Y4w130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP385876.RAAa7umuoJ06o5Hr2j580q0y0QGdPl6qMWhppbJti0Y4w130_assertion type Assertion NP385876.RAAa7umuoJ06o5Hr2j580q0y0QGdPl6qMWhppbJti0Y4w130_head.
- NP385876.RAAa7umuoJ06o5Hr2j580q0y0QGdPl6qMWhppbJti0Y4w130_assertion description "[Mutations in these genes cause autosomal recessive (GJB2 and GJB3), autosomal dominant (GJB2, GJB3, and GJB6) or X-linked (GJB1) hearing impairment, both syndromic (GJB2, keratoderma; GJB3 erythrokeratodermia variabilis; and GJB1, peripheral neuropathy), and non-syndromic (GJB2, GJB3, and GJB6).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP385876.RAAa7umuoJ06o5Hr2j580q0y0QGdPl6qMWhppbJti0Y4w130_provenance.
- NP385876.RAAa7umuoJ06o5Hr2j580q0y0QGdPl6qMWhppbJti0Y4w130_assertion evidence source_evidence_literature NP385876.RAAa7umuoJ06o5Hr2j580q0y0QGdPl6qMWhppbJti0Y4w130_provenance.
- NP385876.RAAa7umuoJ06o5Hr2j580q0y0QGdPl6qMWhppbJti0Y4w130_assertion SIO_000772 10980526 NP385876.RAAa7umuoJ06o5Hr2j580q0y0QGdPl6qMWhppbJti0Y4w130_provenance.
- NP385876.RAAa7umuoJ06o5Hr2j580q0y0QGdPl6qMWhppbJti0Y4w130_assertion wasDerivedFrom befree-20140225 NP385876.RAAa7umuoJ06o5Hr2j580q0y0QGdPl6qMWhppbJti0Y4w130_provenance.
- NP385876.RAAa7umuoJ06o5Hr2j580q0y0QGdPl6qMWhppbJti0Y4w130_assertion wasGeneratedBy ECO_0000203 NP385876.RAAa7umuoJ06o5Hr2j580q0y0QGdPl6qMWhppbJti0Y4w130_provenance.