Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_assertion> ?p ?o ?g. }
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- NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_assertion type Assertion NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_head.
- NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_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." NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.
- NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_assertion evidence source_evidence_literature NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.
- NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_assertion SIO_000772 15314642 NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.
- NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_assertion wasDerivedFrom lhgdn-20090331 NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.
- NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_assertion wasGeneratedBy ECO_0000203 NP184130.RA0a1298-g5AUoRrAUSc4tcsEXka7mM1NYpgSs3stbw3I130_provenance.