Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_assertion> ?p ?o ?g. }
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- NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_assertion type Assertion NP980126.RAOwLVVzKbDr_h3L7EEYoAk5pk02IUXzEaRqouIn1GH7E130_head.
- 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.