Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_assertion> ?p ?o ?g. }
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- NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_assertion type Assertion NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_head.
- NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_assertion wasGeneratedBy ECO_0000203 NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.
- NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_assertion wasDerivedFrom befree-2016 NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.
- NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_assertion SIO_000772 15314642 NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.
- NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_assertion evidence source_evidence_literature NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.
- NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_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." NP456269.RASjFslR7AcJx6FG7fEDNmlCfY61pzb1S7xsmpDI4F9GA130_provenance.