Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP441648.RA6HgAqiD5Y_HusYcoJSFn7ry8RjJ5JNki-syzLS10PZc130_assertion> ?p ?o ?g. }
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- NP441648.RA6HgAqiD5Y_HusYcoJSFn7ry8RjJ5JNki-syzLS10PZc130_assertion type Assertion NP441648.RA6HgAqiD5Y_HusYcoJSFn7ry8RjJ5JNki-syzLS10PZc130_head.
- NP441648.RA6HgAqiD5Y_HusYcoJSFn7ry8RjJ5JNki-syzLS10PZc130_assertion description "[Inherited mutations in the XPD subunit of the general transcription/repair factor TFIIH yield the rare genetic disorder Xeroderma pigmentosum (XP), the phenotypes of which cannot be explained solely on the basis of a DNA repair defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP441648.RA6HgAqiD5Y_HusYcoJSFn7ry8RjJ5JNki-syzLS10PZc130_provenance.
- NP441648.RA6HgAqiD5Y_HusYcoJSFn7ry8RjJ5JNki-syzLS10PZc130_assertion evidence source_evidence_literature NP441648.RA6HgAqiD5Y_HusYcoJSFn7ry8RjJ5JNki-syzLS10PZc130_provenance.
- NP441648.RA6HgAqiD5Y_HusYcoJSFn7ry8RjJ5JNki-syzLS10PZc130_assertion SIO_000772 11955452 NP441648.RA6HgAqiD5Y_HusYcoJSFn7ry8RjJ5JNki-syzLS10PZc130_provenance.
- NP441648.RA6HgAqiD5Y_HusYcoJSFn7ry8RjJ5JNki-syzLS10PZc130_assertion wasDerivedFrom befree-20150227 NP441648.RA6HgAqiD5Y_HusYcoJSFn7ry8RjJ5JNki-syzLS10PZc130_provenance.
- NP441648.RA6HgAqiD5Y_HusYcoJSFn7ry8RjJ5JNki-syzLS10PZc130_assertion wasGeneratedBy ECO_0000203 NP441648.RA6HgAqiD5Y_HusYcoJSFn7ry8RjJ5JNki-syzLS10PZc130_provenance.