Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_provenance.
- NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_assertion wasGeneratedBy ECO_0000218 NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_provenance.
- NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_assertion wasDerivedFrom uniprot-2016 NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_provenance.
- NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_assertion SIO_000772 21683322 NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_provenance.
- NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_assertion evidence source_evidence_curated NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_provenance.
- NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_assertion description "[Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6684.RA4JSOqHKR7Hd1Gzjnvd_XI8qlgvUpSa6pxWrkC6stz2s130_provenance.