Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP496651.RA6U2zp-yMyLwlxjOkzpz7BHNMYEfFI1gM-oW0jyPkb1o130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP496651.RA6U2zp-yMyLwlxjOkzpz7BHNMYEfFI1gM-oW0jyPkb1o130_assertion type Assertion NP496651.RA6U2zp-yMyLwlxjOkzpz7BHNMYEfFI1gM-oW0jyPkb1o130_head.
- NP496651.RA6U2zp-yMyLwlxjOkzpz7BHNMYEfFI1gM-oW0jyPkb1o130_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." NP496651.RA6U2zp-yMyLwlxjOkzpz7BHNMYEfFI1gM-oW0jyPkb1o130_provenance.
- NP496651.RA6U2zp-yMyLwlxjOkzpz7BHNMYEfFI1gM-oW0jyPkb1o130_assertion evidence source_evidence_literature NP496651.RA6U2zp-yMyLwlxjOkzpz7BHNMYEfFI1gM-oW0jyPkb1o130_provenance.
- NP496651.RA6U2zp-yMyLwlxjOkzpz7BHNMYEfFI1gM-oW0jyPkb1o130_assertion SIO_000772 11955452 NP496651.RA6U2zp-yMyLwlxjOkzpz7BHNMYEfFI1gM-oW0jyPkb1o130_provenance.
- NP496651.RA6U2zp-yMyLwlxjOkzpz7BHNMYEfFI1gM-oW0jyPkb1o130_assertion wasDerivedFrom befree-20140225 NP496651.RA6U2zp-yMyLwlxjOkzpz7BHNMYEfFI1gM-oW0jyPkb1o130_provenance.
- NP496651.RA6U2zp-yMyLwlxjOkzpz7BHNMYEfFI1gM-oW0jyPkb1o130_assertion wasGeneratedBy ECO_0000203 NP496651.RA6U2zp-yMyLwlxjOkzpz7BHNMYEfFI1gM-oW0jyPkb1o130_provenance.