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- source_evidence_literature type ECO_0000212 NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_provenance.
- NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_assertion description "[We have identified a new point mutation, in the SCN4A gene, in a family with a hyperkalaemic periodic paralysis phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_provenance.
- NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_assertion evidence source_evidence_literature NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_provenance.
- NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_assertion SIO_000772 10366610 NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_provenance.
- NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_assertion wasDerivedFrom befree-2016 NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_provenance.
- NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_assertion wasGeneratedBy ECO_0000203 NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_provenance.
- befree-2016 importedOn "2016-02-19" NP254879.RAaIwWURRZuh_HEK-FqYBMZpOeMEMDE0DBuzAARhIAPW8130_provenance.