Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP276881.RA7iC4u75Tk39ewI0RZPd9BAS6pTmqUZ33eeX9Nui6Dh0130_assertion> ?p ?o ?g. }
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- NP276881.RA7iC4u75Tk39ewI0RZPd9BAS6pTmqUZ33eeX9Nui6Dh0130_assertion type Assertion NP276881.RA7iC4u75Tk39ewI0RZPd9BAS6pTmqUZ33eeX9Nui6Dh0130_head.
- NP276881.RA7iC4u75Tk39ewI0RZPd9BAS6pTmqUZ33eeX9Nui6Dh0130_assertion description "[Missense mutations within the helicase regions of these genes are associated with DNA repair deficiencies and XPD; mutations elsewhere in these genes are correlated with symptoms of XP and Cockayne syndrome and trichothiodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP276881.RA7iC4u75Tk39ewI0RZPd9BAS6pTmqUZ33eeX9Nui6Dh0130_provenance.
- NP276881.RA7iC4u75Tk39ewI0RZPd9BAS6pTmqUZ33eeX9Nui6Dh0130_assertion evidence source_evidence_literature NP276881.RA7iC4u75Tk39ewI0RZPd9BAS6pTmqUZ33eeX9Nui6Dh0130_provenance.
- NP276881.RA7iC4u75Tk39ewI0RZPd9BAS6pTmqUZ33eeX9Nui6Dh0130_assertion SIO_000772 10699759 NP276881.RA7iC4u75Tk39ewI0RZPd9BAS6pTmqUZ33eeX9Nui6Dh0130_provenance.
- NP276881.RA7iC4u75Tk39ewI0RZPd9BAS6pTmqUZ33eeX9Nui6Dh0130_assertion wasDerivedFrom befree-2016 NP276881.RA7iC4u75Tk39ewI0RZPd9BAS6pTmqUZ33eeX9Nui6Dh0130_provenance.
- NP276881.RA7iC4u75Tk39ewI0RZPd9BAS6pTmqUZ33eeX9Nui6Dh0130_assertion wasGeneratedBy ECO_0000203 NP276881.RA7iC4u75Tk39ewI0RZPd9BAS6pTmqUZ33eeX9Nui6Dh0130_provenance.