Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_provenance.
- NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_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." NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_provenance.
- NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_assertion evidence source_evidence_curated NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_provenance.
- NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_assertion SIO_000772 20037588 NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_provenance.
- NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_assertion wasDerivedFrom ctd_human-20150221 NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_provenance.
- NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_assertion wasGeneratedBy ECO_0000218 NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP33454.RAf3PgQ-laQsPrNQhx78pdjFO49_aFbq4CnArQlLH0x0g130_provenance.