Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_assertion> ?p ?o ?g. }
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- NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_assertion type Assertion NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_head.
- NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_assertion description "[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_provenance.
- NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_assertion evidence source_evidence_literature NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_provenance.
- NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_assertion SIO_000772 10951251 NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_provenance.
- NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_assertion wasDerivedFrom befree-20140225 NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_provenance.
- NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_assertion wasGeneratedBy ECO_0000203 NP481967.RACFvzFsGMghiH4EK7TR5DctVIz8en6iR65g2morRbxnU130_provenance.