Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_assertion> ?p ?o ?g. }
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- NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_assertion type Assertion NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_head.
- NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_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." NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_provenance.
- NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_assertion evidence source_evidence_literature NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_provenance.
- NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_assertion SIO_000772 15314642 NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_provenance.
- NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_assertion wasDerivedFrom befree-20150227 NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_provenance.
- NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_assertion wasGeneratedBy ECO_0000203 NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_provenance.