Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP897065.RACTTff6KO4ar3zqA9sOiJ-cA6i79N9D0gez3b-PWoXMM130_assertion> ?p ?o ?g. }
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- NP897065.RACTTff6KO4ar3zqA9sOiJ-cA6i79N9D0gez3b-PWoXMM130_assertion type Assertion NP897065.RACTTff6KO4ar3zqA9sOiJ-cA6i79N9D0gez3b-PWoXMM130_head.
- NP897065.RACTTff6KO4ar3zqA9sOiJ-cA6i79N9D0gez3b-PWoXMM130_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." NP897065.RACTTff6KO4ar3zqA9sOiJ-cA6i79N9D0gez3b-PWoXMM130_provenance.
- NP897065.RACTTff6KO4ar3zqA9sOiJ-cA6i79N9D0gez3b-PWoXMM130_assertion evidence source_evidence_literature NP897065.RACTTff6KO4ar3zqA9sOiJ-cA6i79N9D0gez3b-PWoXMM130_provenance.
- NP897065.RACTTff6KO4ar3zqA9sOiJ-cA6i79N9D0gez3b-PWoXMM130_assertion SIO_000772 21211617 NP897065.RACTTff6KO4ar3zqA9sOiJ-cA6i79N9D0gez3b-PWoXMM130_provenance.
- NP897065.RACTTff6KO4ar3zqA9sOiJ-cA6i79N9D0gez3b-PWoXMM130_assertion wasDerivedFrom befree-20140225 NP897065.RACTTff6KO4ar3zqA9sOiJ-cA6i79N9D0gez3b-PWoXMM130_provenance.
- NP897065.RACTTff6KO4ar3zqA9sOiJ-cA6i79N9D0gez3b-PWoXMM130_assertion wasGeneratedBy ECO_0000203 NP897065.RACTTff6KO4ar3zqA9sOiJ-cA6i79N9D0gez3b-PWoXMM130_provenance.