Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_assertion type Assertion NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_head.
- NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_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." NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.
- NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_assertion evidence source_evidence_literature NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.
- NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_assertion SIO_000772 15314642 NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.
- NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_assertion wasDerivedFrom lhgdn-20090331 NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.
- NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_assertion wasGeneratedBy ECO_0000203 NP120941.RAth2u1z084NSPP5DF6GKb0cqW-CbTp1tQM150m54SNHU130_provenance.