Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_provenance.
- NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_assertion wasGeneratedBy ECO_0000218 NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_provenance.
- NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_assertion wasDerivedFrom uniprot-2016 NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_provenance.
- NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_assertion SIO_000772 11973334 NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_provenance.
- NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_assertion evidence source_evidence_curated NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_provenance.
- NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_assertion description "[Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1992.RAmtsdRdgWI3QntYltZmMce77boAultS6tc6ePD_dIN0E130_provenance.