Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_provenance.
- befree-2016 importedOn "2016-02-19" NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_provenance.
- NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_assertion wasGeneratedBy ECO_0000203 NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_provenance.
- NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_assertion wasDerivedFrom befree-2016 NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_provenance.
- NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_assertion SIO_000772 21872273 NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_provenance.
- NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_assertion evidence source_evidence_literature NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_provenance.
- NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_assertion description "[We suggest that, (1) when clinical and MR features are present, direct sequencing of the ALDH3A2 gene in SLS is of particular interest without necessity of a skin biopsy for enzymatic assay in order to propose genetic counsel and (2) identification of mutations already described in the same population with putative founder effects may simplify genetic analysis in this context.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919609.RA2pOm6E2JD-VeGsIKk6FeSkAsC_4xIWZcAQ3O6T85Uck130_provenance.