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- source_evidence_literature type ECO_0000212 NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP251801.RAFEChue9SVOWXhvCMtYd-GQwXONLZhEcNhAyyjLLZrfk130_provenance.