Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_assertion> ?p ?o ?g. }
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- NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_assertion type Assertion NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_head.
- NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_assertion wasGeneratedBy ECO_0000203 NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_provenance.
- NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_assertion wasDerivedFrom befree-2016 NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_provenance.
- NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_assertion SIO_000772 21930696 NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_provenance.
- NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_assertion evidence source_evidence_literature NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_provenance.
- NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_assertion description "[We analyzed human DLD mutations linked to strikingly different clinical phenotypes, including E340K, D444V, R447G, and R460G in the dimer interface domain that are responsible for severe multisystem disorders of infancy and G194C in the NAD(+)-binding domain that is typically associated with milder presentations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP924769.RACGp1mkUPoKvbVv1eH9OOu99iBRU94TX5_ZuTYW3PRDw130_provenance.