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- source_evidence_literature type ECO_0000212 NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_provenance.
- NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_assertion description "[Using autozygosity mapping and exome sequencing, we have identified a homozygous missense mutation in CERS3 in patients with congenital ichthyosis characterized by collodion membranes at birth, generalized scaling of the skin, and mild erythroderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_provenance.
- NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_assertion evidence source_evidence_literature NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_provenance.
- NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_assertion SIO_000772 23549421 NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_provenance.
- NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_assertion wasDerivedFrom befree-20150227 NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_provenance.
- NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_assertion wasGeneratedBy ECO_0000203 NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_provenance.
- befree-20150227 importedOn "2015-02-27" NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_provenance.