Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP276876.RAKjFSrS26kq2mVq0dxi8DqIG9-LDHvUJMdJC8GbLGi34130_assertion> ?p ?o ?g. }
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- NP276876.RAKjFSrS26kq2mVq0dxi8DqIG9-LDHvUJMdJC8GbLGi34130_assertion type Assertion NP276876.RAKjFSrS26kq2mVq0dxi8DqIG9-LDHvUJMdJC8GbLGi34130_head.
- NP276876.RAKjFSrS26kq2mVq0dxi8DqIG9-LDHvUJMdJC8GbLGi34130_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." NP276876.RAKjFSrS26kq2mVq0dxi8DqIG9-LDHvUJMdJC8GbLGi34130_provenance.
- NP276876.RAKjFSrS26kq2mVq0dxi8DqIG9-LDHvUJMdJC8GbLGi34130_assertion evidence source_evidence_literature NP276876.RAKjFSrS26kq2mVq0dxi8DqIG9-LDHvUJMdJC8GbLGi34130_provenance.
- NP276876.RAKjFSrS26kq2mVq0dxi8DqIG9-LDHvUJMdJC8GbLGi34130_assertion SIO_000772 10699759 NP276876.RAKjFSrS26kq2mVq0dxi8DqIG9-LDHvUJMdJC8GbLGi34130_provenance.
- NP276876.RAKjFSrS26kq2mVq0dxi8DqIG9-LDHvUJMdJC8GbLGi34130_assertion wasDerivedFrom befree-2016 NP276876.RAKjFSrS26kq2mVq0dxi8DqIG9-LDHvUJMdJC8GbLGi34130_provenance.
- NP276876.RAKjFSrS26kq2mVq0dxi8DqIG9-LDHvUJMdJC8GbLGi34130_assertion wasGeneratedBy ECO_0000203 NP276876.RAKjFSrS26kq2mVq0dxi8DqIG9-LDHvUJMdJC8GbLGi34130_provenance.