Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP716782.RAwHpUZHjSoY3pqU5246pemmDgjMXdKMI3iP7-P9BQE2U130_assertion> ?p ?o ?g. }
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- NP716782.RAwHpUZHjSoY3pqU5246pemmDgjMXdKMI3iP7-P9BQE2U130_assertion type Assertion NP716782.RAwHpUZHjSoY3pqU5246pemmDgjMXdKMI3iP7-P9BQE2U130_head.
- NP716782.RAwHpUZHjSoY3pqU5246pemmDgjMXdKMI3iP7-P9BQE2U130_assertion wasGeneratedBy ECO_0000203 NP716782.RAwHpUZHjSoY3pqU5246pemmDgjMXdKMI3iP7-P9BQE2U130_provenance.
- NP716782.RAwHpUZHjSoY3pqU5246pemmDgjMXdKMI3iP7-P9BQE2U130_assertion wasDerivedFrom befree-2016 NP716782.RAwHpUZHjSoY3pqU5246pemmDgjMXdKMI3iP7-P9BQE2U130_provenance.
- NP716782.RAwHpUZHjSoY3pqU5246pemmDgjMXdKMI3iP7-P9BQE2U130_assertion SIO_000772 19172752 NP716782.RAwHpUZHjSoY3pqU5246pemmDgjMXdKMI3iP7-P9BQE2U130_provenance.
- NP716782.RAwHpUZHjSoY3pqU5246pemmDgjMXdKMI3iP7-P9BQE2U130_assertion evidence source_evidence_literature NP716782.RAwHpUZHjSoY3pqU5246pemmDgjMXdKMI3iP7-P9BQE2U130_provenance.
- NP716782.RAwHpUZHjSoY3pqU5246pemmDgjMXdKMI3iP7-P9BQE2U130_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." NP716782.RAwHpUZHjSoY3pqU5246pemmDgjMXdKMI3iP7-P9BQE2U130_provenance.