Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP546087.RA1gnuVNBMqg5DqWGaz5267z6jFbK2xSAK_kEpEErbMvg130_assertion> ?p ?o ?g. }
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- NP546087.RA1gnuVNBMqg5DqWGaz5267z6jFbK2xSAK_kEpEErbMvg130_assertion type Assertion NP546087.RA1gnuVNBMqg5DqWGaz5267z6jFbK2xSAK_kEpEErbMvg130_head.
- NP546087.RA1gnuVNBMqg5DqWGaz5267z6jFbK2xSAK_kEpEErbMvg130_assertion description "[Mutations in the genes (LAMA3, LAMB3, and LAMC2) encoding the subunit polypeptides of the cutaneous basement membrane zone protein laminin 5 have been reported in different forms of junctional epidermolysis bullosa (JEB), an inherited blistering skin disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP546087.RA1gnuVNBMqg5DqWGaz5267z6jFbK2xSAK_kEpEErbMvg130_provenance.
- NP546087.RA1gnuVNBMqg5DqWGaz5267z6jFbK2xSAK_kEpEErbMvg130_assertion evidence source_evidence_literature NP546087.RA1gnuVNBMqg5DqWGaz5267z6jFbK2xSAK_kEpEErbMvg130_provenance.
- NP546087.RA1gnuVNBMqg5DqWGaz5267z6jFbK2xSAK_kEpEErbMvg130_assertion SIO_000772 9759651 NP546087.RA1gnuVNBMqg5DqWGaz5267z6jFbK2xSAK_kEpEErbMvg130_provenance.
- NP546087.RA1gnuVNBMqg5DqWGaz5267z6jFbK2xSAK_kEpEErbMvg130_assertion wasDerivedFrom befree-20140225 NP546087.RA1gnuVNBMqg5DqWGaz5267z6jFbK2xSAK_kEpEErbMvg130_provenance.
- NP546087.RA1gnuVNBMqg5DqWGaz5267z6jFbK2xSAK_kEpEErbMvg130_assertion wasGeneratedBy ECO_0000203 NP546087.RA1gnuVNBMqg5DqWGaz5267z6jFbK2xSAK_kEpEErbMvg130_provenance.