Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP846433.RA7NxJuL0AzVwmLCcGD7MBs6K5jluDwmES8S6gtaqcwCA130_assertion> ?p ?o ?g. }
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- NP846433.RA7NxJuL0AzVwmLCcGD7MBs6K5jluDwmES8S6gtaqcwCA130_assertion type Assertion NP846433.RA7NxJuL0AzVwmLCcGD7MBs6K5jluDwmES8S6gtaqcwCA130_head.
- NP846433.RA7NxJuL0AzVwmLCcGD7MBs6K5jluDwmES8S6gtaqcwCA130_assertion description "[Our study clearly demonstrated that recurrent c.1938delC in ITGB4 is a founder mutation in JEB-PA patients, and that genotyping of the mutation can be utilized for prenatal diagnosis of JEB-PA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP846433.RA7NxJuL0AzVwmLCcGD7MBs6K5jluDwmES8S6gtaqcwCA130_provenance.
- NP846433.RA7NxJuL0AzVwmLCcGD7MBs6K5jluDwmES8S6gtaqcwCA130_assertion evidence source_evidence_literature NP846433.RA7NxJuL0AzVwmLCcGD7MBs6K5jluDwmES8S6gtaqcwCA130_provenance.
- NP846433.RA7NxJuL0AzVwmLCcGD7MBs6K5jluDwmES8S6gtaqcwCA130_assertion SIO_000772 20955205 NP846433.RA7NxJuL0AzVwmLCcGD7MBs6K5jluDwmES8S6gtaqcwCA130_provenance.
- NP846433.RA7NxJuL0AzVwmLCcGD7MBs6K5jluDwmES8S6gtaqcwCA130_assertion wasDerivedFrom befree-2016 NP846433.RA7NxJuL0AzVwmLCcGD7MBs6K5jluDwmES8S6gtaqcwCA130_provenance.
- NP846433.RA7NxJuL0AzVwmLCcGD7MBs6K5jluDwmES8S6gtaqcwCA130_assertion wasGeneratedBy ECO_0000203 NP846433.RA7NxJuL0AzVwmLCcGD7MBs6K5jluDwmES8S6gtaqcwCA130_provenance.