Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP651672.RA7bR5ej8qVo2YsZb3ZtoG1pd8clQEwdtmk7Hjmy3qB68130_assertion> ?p ?o ?g. }
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- NP651672.RA7bR5ej8qVo2YsZb3ZtoG1pd8clQEwdtmk7Hjmy3qB68130_assertion type Assertion NP651672.RA7bR5ej8qVo2YsZb3ZtoG1pd8clQEwdtmk7Hjmy3qB68130_head.
- NP651672.RA7bR5ej8qVo2YsZb3ZtoG1pd8clQEwdtmk7Hjmy3qB68130_assertion description "[In a 6-year-old girl, with Weber-Cockayne type EBS (WC-EBS) with palmoplantar blisters and moderate mental retardation, a novel V133L substitution was detected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP651672.RA7bR5ej8qVo2YsZb3ZtoG1pd8clQEwdtmk7Hjmy3qB68130_provenance.
- NP651672.RA7bR5ej8qVo2YsZb3ZtoG1pd8clQEwdtmk7Hjmy3qB68130_assertion evidence source_evidence_literature NP651672.RA7bR5ej8qVo2YsZb3ZtoG1pd8clQEwdtmk7Hjmy3qB68130_provenance.
- NP651672.RA7bR5ej8qVo2YsZb3ZtoG1pd8clQEwdtmk7Hjmy3qB68130_assertion SIO_000772 14987259 NP651672.RA7bR5ej8qVo2YsZb3ZtoG1pd8clQEwdtmk7Hjmy3qB68130_provenance.
- NP651672.RA7bR5ej8qVo2YsZb3ZtoG1pd8clQEwdtmk7Hjmy3qB68130_assertion wasDerivedFrom befree-20140225 NP651672.RA7bR5ej8qVo2YsZb3ZtoG1pd8clQEwdtmk7Hjmy3qB68130_provenance.
- NP651672.RA7bR5ej8qVo2YsZb3ZtoG1pd8clQEwdtmk7Hjmy3qB68130_assertion wasGeneratedBy ECO_0000203 NP651672.RA7bR5ej8qVo2YsZb3ZtoG1pd8clQEwdtmk7Hjmy3qB68130_provenance.