Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP985981.RADrBgTLVakpCTVZ0kQludjU2iWYrr7t9AVTosQpNM5MY130_assertion> ?p ?o ?g. }
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- NP985981.RADrBgTLVakpCTVZ0kQludjU2iWYrr7t9AVTosQpNM5MY130_assertion type Assertion NP985981.RADrBgTLVakpCTVZ0kQludjU2iWYrr7t9AVTosQpNM5MY130_head.
- NP985981.RADrBgTLVakpCTVZ0kQludjU2iWYrr7t9AVTosQpNM5MY130_assertion description "[Mutations in genes encoding Fras1, Frem1 and Frem2 are causative for dermal-epidermal detachment in the plane of sublamina densa and have been identified in different classes of mouse bleb mutants, the murine model of human Fraser syndrome, the hallmark phenotypic characteristics of which are embryonic skin blistering, cryptophthalmos and renal agenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP985981.RADrBgTLVakpCTVZ0kQludjU2iWYrr7t9AVTosQpNM5MY130_provenance.
- NP985981.RADrBgTLVakpCTVZ0kQludjU2iWYrr7t9AVTosQpNM5MY130_assertion evidence source_evidence_literature NP985981.RADrBgTLVakpCTVZ0kQludjU2iWYrr7t9AVTosQpNM5MY130_provenance.
- NP985981.RADrBgTLVakpCTVZ0kQludjU2iWYrr7t9AVTosQpNM5MY130_assertion SIO_000772 21182980 NP985981.RADrBgTLVakpCTVZ0kQludjU2iWYrr7t9AVTosQpNM5MY130_provenance.
- NP985981.RADrBgTLVakpCTVZ0kQludjU2iWYrr7t9AVTosQpNM5MY130_assertion wasDerivedFrom befree-20150227 NP985981.RADrBgTLVakpCTVZ0kQludjU2iWYrr7t9AVTosQpNM5MY130_provenance.
- NP985981.RADrBgTLVakpCTVZ0kQludjU2iWYrr7t9AVTosQpNM5MY130_assertion wasGeneratedBy ECO_0000203 NP985981.RADrBgTLVakpCTVZ0kQludjU2iWYrr7t9AVTosQpNM5MY130_provenance.