Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.
- NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_assertion description "[We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.
- NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_assertion evidence source_evidence_curated NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.
- NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_assertion SIO_000772 15940695 NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.
- NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_assertion wasDerivedFrom ctd_human-20150221 NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.
- NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_assertion wasGeneratedBy ECO_0000218 NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP14902.RAEYWhuhfZW2tczZYBID9QJ_whvTICaySirIHT1PA3kuI130_provenance.