Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP768662.RAK8P9D2ygKJ4xF7XRppAMeDVkPaQN5HZ23nZFhbI1-tU130_assertion> ?p ?o ?g. }
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- NP768662.RAK8P9D2ygKJ4xF7XRppAMeDVkPaQN5HZ23nZFhbI1-tU130_assertion type Assertion NP768662.RAK8P9D2ygKJ4xF7XRppAMeDVkPaQN5HZ23nZFhbI1-tU130_head.
- NP768662.RAK8P9D2ygKJ4xF7XRppAMeDVkPaQN5HZ23nZFhbI1-tU130_assertion wasGeneratedBy ECO_0000203 NP768662.RAK8P9D2ygKJ4xF7XRppAMeDVkPaQN5HZ23nZFhbI1-tU130_provenance.
- NP768662.RAK8P9D2ygKJ4xF7XRppAMeDVkPaQN5HZ23nZFhbI1-tU130_assertion wasDerivedFrom befree-20150227 NP768662.RAK8P9D2ygKJ4xF7XRppAMeDVkPaQN5HZ23nZFhbI1-tU130_provenance.
- NP768662.RAK8P9D2ygKJ4xF7XRppAMeDVkPaQN5HZ23nZFhbI1-tU130_assertion SIO_000772 22344793 NP768662.RAK8P9D2ygKJ4xF7XRppAMeDVkPaQN5HZ23nZFhbI1-tU130_provenance.
- NP768662.RAK8P9D2ygKJ4xF7XRppAMeDVkPaQN5HZ23nZFhbI1-tU130_assertion evidence source_evidence_literature NP768662.RAK8P9D2ygKJ4xF7XRppAMeDVkPaQN5HZ23nZFhbI1-tU130_provenance.
- NP768662.RAK8P9D2ygKJ4xF7XRppAMeDVkPaQN5HZ23nZFhbI1-tU130_assertion description "[While it is obvious that additional studies are necessary to further delineate the association between XLH and HSCR in the presence of L1CAM mutations, the documentation of this new patient reinforces the role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP768662.RAK8P9D2ygKJ4xF7XRppAMeDVkPaQN5HZ23nZFhbI1-tU130_provenance.