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- source_evidence_literature type ECO_0000212 NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_provenance.
- NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_assertion description "[This study expands the phenotypic spectrum of B4GALT7 mutations, initially described as responsible for the progeroid variant of Ehlers-Danlos syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_provenance.
- NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_assertion evidence source_evidence_literature NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_provenance.
- NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_assertion SIO_000772 24755949 NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_provenance.
- NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_assertion wasDerivedFrom befree-2016 NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_provenance.
- NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_assertion wasGeneratedBy ECO_0000203 NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_provenance.
- befree-2016 importedOn "2016-02-19" NP1175814.RAwUa3es5960aAV1hIrIEe2Sjgcxro8Pe47-xf7tJ-j2g130_provenance.