Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.
- NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_assertion description "[Using exome sequencing in two families with PTD, we identified a new causative gene, GNAL, with a nonsense mutation encoding p.Ser293* resulting in a premature stop codon in one family and a missense mutation encoding p.Val137Met in the other.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.
- NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_assertion evidence source_evidence_curated NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.
- NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_assertion SIO_000772 23222958 NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.
- NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_assertion wasDerivedFrom ctd_human-20130708 NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.
- NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_assertion wasGeneratedBy ECO_0000218 NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP16988.RAKq2pFpchlyUSgYa4qb3O2ucmQISKXOx5tNlUhA_OsxI130_provenance.