Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP213828.RA_gPxkavvLnkI1Mi1KbUbhAIIeBAs0fqsGs88Zjrg_A4130_assertion> ?p ?o ?g. }
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- NP213828.RA_gPxkavvLnkI1Mi1KbUbhAIIeBAs0fqsGs88Zjrg_A4130_assertion type Assertion NP213828.RA_gPxkavvLnkI1Mi1KbUbhAIIeBAs0fqsGs88Zjrg_A4130_head.
- NP213828.RA_gPxkavvLnkI1Mi1KbUbhAIIeBAs0fqsGs88Zjrg_A4130_assertion description "[A p.Glu2857X mutation exhibits mild pathogenic effects in COL7A1, and its uniqueness enables detailed analysis and comparison of the destabilizing effects of missense mutations in dystrophic epidermolysis bullosa patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP213828.RA_gPxkavvLnkI1Mi1KbUbhAIIeBAs0fqsGs88Zjrg_A4130_provenance.
- NP213828.RA_gPxkavvLnkI1Mi1KbUbhAIIeBAs0fqsGs88Zjrg_A4130_assertion evidence source_evidence_literature NP213828.RA_gPxkavvLnkI1Mi1KbUbhAIIeBAs0fqsGs88Zjrg_A4130_provenance.
- NP213828.RA_gPxkavvLnkI1Mi1KbUbhAIIeBAs0fqsGs88Zjrg_A4130_assertion SIO_000772 18440202 NP213828.RA_gPxkavvLnkI1Mi1KbUbhAIIeBAs0fqsGs88Zjrg_A4130_provenance.
- NP213828.RA_gPxkavvLnkI1Mi1KbUbhAIIeBAs0fqsGs88Zjrg_A4130_assertion wasDerivedFrom lhgdn-20090331 NP213828.RA_gPxkavvLnkI1Mi1KbUbhAIIeBAs0fqsGs88Zjrg_A4130_provenance.
- NP213828.RA_gPxkavvLnkI1Mi1KbUbhAIIeBAs0fqsGs88Zjrg_A4130_assertion wasGeneratedBy ECO_0000203 NP213828.RA_gPxkavvLnkI1Mi1KbUbhAIIeBAs0fqsGs88Zjrg_A4130_provenance.