Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP818845.RAYTcJnLJ7xwGxidZAAuFIKTI27ooPMHGcBHFkuQX9M9Q130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP818845.RAYTcJnLJ7xwGxidZAAuFIKTI27ooPMHGcBHFkuQX9M9Q130_assertion type Assertion NP818845.RAYTcJnLJ7xwGxidZAAuFIKTI27ooPMHGcBHFkuQX9M9Q130_head.
- NP818845.RAYTcJnLJ7xwGxidZAAuFIKTI27ooPMHGcBHFkuQX9M9Q130_assertion description "[A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP818845.RAYTcJnLJ7xwGxidZAAuFIKTI27ooPMHGcBHFkuQX9M9Q130_provenance.
- NP818845.RAYTcJnLJ7xwGxidZAAuFIKTI27ooPMHGcBHFkuQX9M9Q130_assertion evidence source_evidence_literature NP818845.RAYTcJnLJ7xwGxidZAAuFIKTI27ooPMHGcBHFkuQX9M9Q130_provenance.
- NP818845.RAYTcJnLJ7xwGxidZAAuFIKTI27ooPMHGcBHFkuQX9M9Q130_assertion SIO_000772 17993581 NP818845.RAYTcJnLJ7xwGxidZAAuFIKTI27ooPMHGcBHFkuQX9M9Q130_provenance.
- NP818845.RAYTcJnLJ7xwGxidZAAuFIKTI27ooPMHGcBHFkuQX9M9Q130_assertion wasDerivedFrom befree-20140225 NP818845.RAYTcJnLJ7xwGxidZAAuFIKTI27ooPMHGcBHFkuQX9M9Q130_provenance.
- NP818845.RAYTcJnLJ7xwGxidZAAuFIKTI27ooPMHGcBHFkuQX9M9Q130_assertion wasGeneratedBy ECO_0000203 NP818845.RAYTcJnLJ7xwGxidZAAuFIKTI27ooPMHGcBHFkuQX9M9Q130_provenance.