Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP209448.RAaL6hQDwKtkb0HogyWwagSuftS9-hDxuSrxJRIkP4Fug130_assertion> ?p ?o ?g. }
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- NP209448.RAaL6hQDwKtkb0HogyWwagSuftS9-hDxuSrxJRIkP4Fug130_assertion type Assertion NP209448.RAaL6hQDwKtkb0HogyWwagSuftS9-hDxuSrxJRIkP4Fug130_head.
- NP209448.RAaL6hQDwKtkb0HogyWwagSuftS9-hDxuSrxJRIkP4Fug130_assertion description "[We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP209448.RAaL6hQDwKtkb0HogyWwagSuftS9-hDxuSrxJRIkP4Fug130_provenance.
- NP209448.RAaL6hQDwKtkb0HogyWwagSuftS9-hDxuSrxJRIkP4Fug130_assertion evidence source_evidence_literature NP209448.RAaL6hQDwKtkb0HogyWwagSuftS9-hDxuSrxJRIkP4Fug130_provenance.
- NP209448.RAaL6hQDwKtkb0HogyWwagSuftS9-hDxuSrxJRIkP4Fug130_assertion SIO_000772 15314642 NP209448.RAaL6hQDwKtkb0HogyWwagSuftS9-hDxuSrxJRIkP4Fug130_provenance.
- NP209448.RAaL6hQDwKtkb0HogyWwagSuftS9-hDxuSrxJRIkP4Fug130_assertion wasDerivedFrom befree-20140225 NP209448.RAaL6hQDwKtkb0HogyWwagSuftS9-hDxuSrxJRIkP4Fug130_provenance.
- NP209448.RAaL6hQDwKtkb0HogyWwagSuftS9-hDxuSrxJRIkP4Fug130_assertion wasGeneratedBy ECO_0000203 NP209448.RAaL6hQDwKtkb0HogyWwagSuftS9-hDxuSrxJRIkP4Fug130_provenance.