Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_assertion> ?p ?o ?g. }
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- NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_assertion type Assertion NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_head.
- NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_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." NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_provenance.
- NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_assertion evidence source_evidence_literature NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_provenance.
- NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_assertion SIO_000772 23549421 NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_provenance.
- NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_assertion wasDerivedFrom befree-20140225 NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_provenance.
- NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_assertion wasGeneratedBy ECO_0000203 NP585106.RAdYLJM5ffNbkO34q1FWZy3u39wbdFiuJPnRUSNS0l4uc130_provenance.