Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_provenance.
- NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_assertion description "[We used homozygosity mapping in two families with autosomal-recessive short-rib polydactyly syndrome Majewski type to identify mutations in NEK1 as an underlying cause of this lethal osteochondrodysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_provenance.
- NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_assertion evidence source_evidence_literature NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_provenance.
- NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_assertion SIO_000772 21211617 NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_provenance.
- NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_assertion wasDerivedFrom befree-20140225 NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_provenance.
- NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_assertion wasGeneratedBy ECO_0000203 NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_provenance.
- befree-20140225 importedOn "2014-02-25" NP306641.RAXQzcgwohxluIkDXKgYFehhsOOHNQqWSAkwHsjV8dRYc130_provenance.