Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_provenance.
- NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_assertion description "[Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_provenance.
- NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_assertion evidence source_evidence_curated NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_provenance.
- NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_assertion SIO_000772 20037588 NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_provenance.
- NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_assertion wasDerivedFrom ctd_human-2016 NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_provenance.
- NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_assertion wasGeneratedBy ECO_0000218 NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP25262.RA3qExa4MMA_RF7JuhrxYg2_J3AgbJpKVrpINFaCj-Nao130_provenance.