Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1417460.RAGLCXG_gxBXQ4ZKJEh9476hLhJbog8FNIUhxbcORGza4#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 23549421 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.