Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_assertion> ?p ?o ?g. }
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- NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_assertion type Assertion NP356.RAWUMBhQaOljmzpUgGeOm_wZL_XR24R9TJq0KLqPVuWOw130_head.
- 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.