Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_assertion> ?p ?o ?g. }
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- NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_assertion type Assertion NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_head.
- NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_assertion description "[In a 7-year-old boy with Dowling-Meara type EBS (DM-EBS), who had severe skin symptoms with extended herpetiform blisters, a novel amino acid substitution N123K in keratin 14 had been detected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.
- NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_assertion evidence source_evidence_literature NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.
- NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_assertion SIO_000772 14987259 NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.
- NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_assertion wasDerivedFrom befree-20140225 NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.
- NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_assertion wasGeneratedBy ECO_0000203 NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.