Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1011310.RAAO4HesMst4Xz-TeAXVWSZq1xGjylMxWMSUYMXL0N-KE130_assertion> ?p ?o ?g. }
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- NP1011310.RAAO4HesMst4Xz-TeAXVWSZq1xGjylMxWMSUYMXL0N-KE130_assertion type Assertion NP1011310.RAAO4HesMst4Xz-TeAXVWSZq1xGjylMxWMSUYMXL0N-KE130_head.
- NP1011310.RAAO4HesMst4Xz-TeAXVWSZq1xGjylMxWMSUYMXL0N-KE130_assertion wasGeneratedBy ECO_0000203 NP1011310.RAAO4HesMst4Xz-TeAXVWSZq1xGjylMxWMSUYMXL0N-KE130_provenance.
- NP1011310.RAAO4HesMst4Xz-TeAXVWSZq1xGjylMxWMSUYMXL0N-KE130_assertion wasDerivedFrom befree-20150227 NP1011310.RAAO4HesMst4Xz-TeAXVWSZq1xGjylMxWMSUYMXL0N-KE130_provenance.
- NP1011310.RAAO4HesMst4Xz-TeAXVWSZq1xGjylMxWMSUYMXL0N-KE130_assertion SIO_000772 19172752 NP1011310.RAAO4HesMst4Xz-TeAXVWSZq1xGjylMxWMSUYMXL0N-KE130_provenance.
- NP1011310.RAAO4HesMst4Xz-TeAXVWSZq1xGjylMxWMSUYMXL0N-KE130_assertion evidence source_evidence_literature NP1011310.RAAO4HesMst4Xz-TeAXVWSZq1xGjylMxWMSUYMXL0N-KE130_provenance.
- NP1011310.RAAO4HesMst4Xz-TeAXVWSZq1xGjylMxWMSUYMXL0N-KE130_assertion description "[Patients with the rare neurodevelopmental repair syndrome known as group A trichothiodystrophy (TTD-A) carry mutations in the gene encoding the p8 subunit of the transcription and DNA repair factor TFIIH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1011310.RAAO4HesMst4Xz-TeAXVWSZq1xGjylMxWMSUYMXL0N-KE130_provenance.