Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP467492.RAG_KVdYZjrCYRqIMmIcYsgpkLh_1KsDslDZjorijhvns130_assertion> ?p ?o ?g. }
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- NP467492.RAG_KVdYZjrCYRqIMmIcYsgpkLh_1KsDslDZjorijhvns130_assertion type Assertion NP467492.RAG_KVdYZjrCYRqIMmIcYsgpkLh_1KsDslDZjorijhvns130_head.
- NP467492.RAG_KVdYZjrCYRqIMmIcYsgpkLh_1KsDslDZjorijhvns130_assertion description "[Mutations in the genes encoding laminin 5 (LAMA3, LAMB3, and LAMC2) have been delineated in the autosomal recessive blistering skin disorder, junctional epidermolysis bullosa, particularly in the lethal (Herlitz) variant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP467492.RAG_KVdYZjrCYRqIMmIcYsgpkLh_1KsDslDZjorijhvns130_provenance.
- NP467492.RAG_KVdYZjrCYRqIMmIcYsgpkLh_1KsDslDZjorijhvns130_assertion evidence source_evidence_literature NP467492.RAG_KVdYZjrCYRqIMmIcYsgpkLh_1KsDslDZjorijhvns130_provenance.
- NP467492.RAG_KVdYZjrCYRqIMmIcYsgpkLh_1KsDslDZjorijhvns130_assertion SIO_000772 8618020 NP467492.RAG_KVdYZjrCYRqIMmIcYsgpkLh_1KsDslDZjorijhvns130_provenance.
- NP467492.RAG_KVdYZjrCYRqIMmIcYsgpkLh_1KsDslDZjorijhvns130_assertion wasDerivedFrom befree-20140225 NP467492.RAG_KVdYZjrCYRqIMmIcYsgpkLh_1KsDslDZjorijhvns130_provenance.
- NP467492.RAG_KVdYZjrCYRqIMmIcYsgpkLh_1KsDslDZjorijhvns130_assertion wasGeneratedBy ECO_0000203 NP467492.RAG_KVdYZjrCYRqIMmIcYsgpkLh_1KsDslDZjorijhvns130_provenance.