Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1072813.RAs81EdTH0pnQ4OuOAwPW7BTUzfZHoyjcWEb6YFgIxDUc130_assertion> ?p ?o ?g. }
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- NP1072813.RAs81EdTH0pnQ4OuOAwPW7BTUzfZHoyjcWEb6YFgIxDUc130_assertion type Assertion NP1072813.RAs81EdTH0pnQ4OuOAwPW7BTUzfZHoyjcWEb6YFgIxDUc130_head.
- NP1072813.RAs81EdTH0pnQ4OuOAwPW7BTUzfZHoyjcWEb6YFgIxDUc130_assertion description "[For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1072813.RAs81EdTH0pnQ4OuOAwPW7BTUzfZHoyjcWEb6YFgIxDUc130_provenance.
- NP1072813.RAs81EdTH0pnQ4OuOAwPW7BTUzfZHoyjcWEb6YFgIxDUc130_assertion evidence source_evidence_literature NP1072813.RAs81EdTH0pnQ4OuOAwPW7BTUzfZHoyjcWEb6YFgIxDUc130_provenance.
- NP1072813.RAs81EdTH0pnQ4OuOAwPW7BTUzfZHoyjcWEb6YFgIxDUc130_assertion SIO_000772 23623389 NP1072813.RAs81EdTH0pnQ4OuOAwPW7BTUzfZHoyjcWEb6YFgIxDUc130_provenance.
- NP1072813.RAs81EdTH0pnQ4OuOAwPW7BTUzfZHoyjcWEb6YFgIxDUc130_assertion wasDerivedFrom befree-2016 NP1072813.RAs81EdTH0pnQ4OuOAwPW7BTUzfZHoyjcWEb6YFgIxDUc130_provenance.
- NP1072813.RAs81EdTH0pnQ4OuOAwPW7BTUzfZHoyjcWEb6YFgIxDUc130_assertion wasGeneratedBy ECO_0000203 NP1072813.RAs81EdTH0pnQ4OuOAwPW7BTUzfZHoyjcWEb6YFgIxDUc130_provenance.