Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP596413.RAukg3nDUR7KVAdSdBUL8LwhHzIIMd9c-wZYsQFpYMe78130_assertion> ?p ?o ?g. }
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- NP596413.RAukg3nDUR7KVAdSdBUL8LwhHzIIMd9c-wZYsQFpYMe78130_assertion type Assertion NP596413.RAukg3nDUR7KVAdSdBUL8LwhHzIIMd9c-wZYsQFpYMe78130_head.
- NP596413.RAukg3nDUR7KVAdSdBUL8LwhHzIIMd9c-wZYsQFpYMe78130_assertion wasGeneratedBy ECO_0000203 NP596413.RAukg3nDUR7KVAdSdBUL8LwhHzIIMd9c-wZYsQFpYMe78130_provenance.
- NP596413.RAukg3nDUR7KVAdSdBUL8LwhHzIIMd9c-wZYsQFpYMe78130_assertion wasDerivedFrom befree-20140225 NP596413.RAukg3nDUR7KVAdSdBUL8LwhHzIIMd9c-wZYsQFpYMe78130_provenance.
- NP596413.RAukg3nDUR7KVAdSdBUL8LwhHzIIMd9c-wZYsQFpYMe78130_assertion SIO_000772 15347343 NP596413.RAukg3nDUR7KVAdSdBUL8LwhHzIIMd9c-wZYsQFpYMe78130_provenance.
- NP596413.RAukg3nDUR7KVAdSdBUL8LwhHzIIMd9c-wZYsQFpYMe78130_assertion evidence source_evidence_literature NP596413.RAukg3nDUR7KVAdSdBUL8LwhHzIIMd9c-wZYsQFpYMe78130_provenance.
- NP596413.RAukg3nDUR7KVAdSdBUL8LwhHzIIMd9c-wZYsQFpYMe78130_assertion description "[A previously undescribed missense mutation was detected in the L12 domain of keratin 5 (K5) in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP596413.RAukg3nDUR7KVAdSdBUL8LwhHzIIMd9c-wZYsQFpYMe78130_provenance.