Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_provenance.
- NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_assertion description "[Compound heterozygosity for silent and dominant glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_provenance.
- NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_assertion evidence source_evidence_curated NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_provenance.
- NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_assertion SIO_000772 10469344 NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_provenance.
- NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_assertion wasDerivedFrom uniprot-2016 NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_provenance.
- NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_assertion wasGeneratedBy ECO_0000218 NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_provenance.