Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_provenance.
- NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_assertion description "[Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_provenance.
- NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_assertion evidence source_evidence_curated NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_provenance.
- NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_assertion SIO_000772 11781871 NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_provenance.
- NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_assertion wasDerivedFrom ctd_human-20130708 NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_provenance.
- NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_assertion wasGeneratedBy ECO_0000218 NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP25799.RAgJ6V6BdKcwvi3tMttMI0SjFJRCIDafDi08W_nni-fbk130_provenance.