Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1384882.RAe88Tyq-iEtTbKHTJ6lS2dmi-m3ttLPoKLi6Gj7xryXc130_assertion> ?p ?o ?g. }
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- NP1384882.RAe88Tyq-iEtTbKHTJ6lS2dmi-m3ttLPoKLi6Gj7xryXc130_assertion type Assertion NP1384882.RAe88Tyq-iEtTbKHTJ6lS2dmi-m3ttLPoKLi6Gj7xryXc130_head.
- NP1384882.RAe88Tyq-iEtTbKHTJ6lS2dmi-m3ttLPoKLi6Gj7xryXc130_assertion description "[An in-frame deletion of 17 amino acids in the second fibronectin type III repeat of integrin beta 4 (delta 17-beta 4) has been associated with junctional epidermolysis bullosa with pyloric atresia (PA-JEB), a genetic disease characterized by altered HD and disadhesion of the epidermis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1384882.RAe88Tyq-iEtTbKHTJ6lS2dmi-m3ttLPoKLi6Gj7xryXc130_provenance.
- NP1384882.RAe88Tyq-iEtTbKHTJ6lS2dmi-m3ttLPoKLi6Gj7xryXc130_assertion evidence source_evidence_literature NP1384882.RAe88Tyq-iEtTbKHTJ6lS2dmi-m3ttLPoKLi6Gj7xryXc130_provenance.
- NP1384882.RAe88Tyq-iEtTbKHTJ6lS2dmi-m3ttLPoKLi6Gj7xryXc130_assertion SIO_000772 9389789 NP1384882.RAe88Tyq-iEtTbKHTJ6lS2dmi-m3ttLPoKLi6Gj7xryXc130_provenance.
- NP1384882.RAe88Tyq-iEtTbKHTJ6lS2dmi-m3ttLPoKLi6Gj7xryXc130_assertion wasDerivedFrom befree-2016 NP1384882.RAe88Tyq-iEtTbKHTJ6lS2dmi-m3ttLPoKLi6Gj7xryXc130_provenance.
- NP1384882.RAe88Tyq-iEtTbKHTJ6lS2dmi-m3ttLPoKLi6Gj7xryXc130_assertion wasGeneratedBy ECO_0000203 NP1384882.RAe88Tyq-iEtTbKHTJ6lS2dmi-m3ttLPoKLi6Gj7xryXc130_provenance.