Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP778002.RAIVVQWav0KB1z-ewJJI0sQLtVpq5ukNK83GNSK8dZTms130_assertion> ?p ?o ?g. }
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- NP778002.RAIVVQWav0KB1z-ewJJI0sQLtVpq5ukNK83GNSK8dZTms130_assertion type Assertion NP778002.RAIVVQWav0KB1z-ewJJI0sQLtVpq5ukNK83GNSK8dZTms130_head.
- NP778002.RAIVVQWav0KB1z-ewJJI0sQLtVpq5ukNK83GNSK8dZTms130_assertion wasGeneratedBy ECO_0000203 NP778002.RAIVVQWav0KB1z-ewJJI0sQLtVpq5ukNK83GNSK8dZTms130_provenance.
- NP778002.RAIVVQWav0KB1z-ewJJI0sQLtVpq5ukNK83GNSK8dZTms130_assertion wasDerivedFrom befree-20140225 NP778002.RAIVVQWav0KB1z-ewJJI0sQLtVpq5ukNK83GNSK8dZTms130_provenance.
- NP778002.RAIVVQWav0KB1z-ewJJI0sQLtVpq5ukNK83GNSK8dZTms130_assertion SIO_000772 11973334 NP778002.RAIVVQWav0KB1z-ewJJI0sQLtVpq5ukNK83GNSK8dZTms130_provenance.
- NP778002.RAIVVQWav0KB1z-ewJJI0sQLtVpq5ukNK83GNSK8dZTms130_assertion evidence source_evidence_literature NP778002.RAIVVQWav0KB1z-ewJJI0sQLtVpq5ukNK83GNSK8dZTms130_provenance.
- NP778002.RAIVVQWav0KB1z-ewJJI0sQLtVpq5ukNK83GNSK8dZTms130_assertion description "[Mutations in the epidermal keratin genes, keratin 5 or keratin 14 lead to the disruption of keratin filament assembly, resulting in an autosomal dominant inherited blistering skin disease, epidermolysis bullosa simplex (EBS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP778002.RAIVVQWav0KB1z-ewJJI0sQLtVpq5ukNK83GNSK8dZTms130_provenance.