Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP709093.RA_dPeQU_sYoJK6EDk5-BkWXEQpr9VABa2L-DSFg-M1Ws130_assertion> ?p ?o ?g. }
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- NP709093.RA_dPeQU_sYoJK6EDk5-BkWXEQpr9VABa2L-DSFg-M1Ws130_assertion type Assertion NP709093.RA_dPeQU_sYoJK6EDk5-BkWXEQpr9VABa2L-DSFg-M1Ws130_head.
- NP709093.RA_dPeQU_sYoJK6EDk5-BkWXEQpr9VABa2L-DSFg-M1Ws130_assertion description "[We describe a patient with severe generalized dystrophic epidermolysis bullosa (EBD) and a novel combination of compound heterozygous mutations in the COL7A1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP709093.RA_dPeQU_sYoJK6EDk5-BkWXEQpr9VABa2L-DSFg-M1Ws130_provenance.
- NP709093.RA_dPeQU_sYoJK6EDk5-BkWXEQpr9VABa2L-DSFg-M1Ws130_assertion evidence source_evidence_literature NP709093.RA_dPeQU_sYoJK6EDk5-BkWXEQpr9VABa2L-DSFg-M1Ws130_provenance.
- NP709093.RA_dPeQU_sYoJK6EDk5-BkWXEQpr9VABa2L-DSFg-M1Ws130_assertion SIO_000772 9284109 NP709093.RA_dPeQU_sYoJK6EDk5-BkWXEQpr9VABa2L-DSFg-M1Ws130_provenance.
- NP709093.RA_dPeQU_sYoJK6EDk5-BkWXEQpr9VABa2L-DSFg-M1Ws130_assertion wasDerivedFrom befree-20140225 NP709093.RA_dPeQU_sYoJK6EDk5-BkWXEQpr9VABa2L-DSFg-M1Ws130_provenance.
- NP709093.RA_dPeQU_sYoJK6EDk5-BkWXEQpr9VABa2L-DSFg-M1Ws130_assertion wasGeneratedBy ECO_0000203 NP709093.RA_dPeQU_sYoJK6EDk5-BkWXEQpr9VABa2L-DSFg-M1Ws130_provenance.