Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP856894.RALaR3hnXgbT-GTobGfH11WcwfaP4HMFkHCrGpbFrLEHI130_assertion> ?p ?o ?g. }
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- NP856894.RALaR3hnXgbT-GTobGfH11WcwfaP4HMFkHCrGpbFrLEHI130_assertion type Assertion NP856894.RALaR3hnXgbT-GTobGfH11WcwfaP4HMFkHCrGpbFrLEHI130_head.
- NP856894.RALaR3hnXgbT-GTobGfH11WcwfaP4HMFkHCrGpbFrLEHI130_assertion description "[These include the hyperinsulinism/hyperammonemia syndrome caused by dominant activating mutations of GLUD1 which interfere with inhibitory regulation by GTP and hyperinsulinism due to recessive deficiency of short-chain 3-hydroxy-acyl-CoA dehydrogenase (SCHAD, encoded by HADH1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP856894.RALaR3hnXgbT-GTobGfH11WcwfaP4HMFkHCrGpbFrLEHI130_provenance.
- NP856894.RALaR3hnXgbT-GTobGfH11WcwfaP4HMFkHCrGpbFrLEHI130_assertion evidence source_evidence_literature NP856894.RALaR3hnXgbT-GTobGfH11WcwfaP4HMFkHCrGpbFrLEHI130_provenance.
- NP856894.RALaR3hnXgbT-GTobGfH11WcwfaP4HMFkHCrGpbFrLEHI130_assertion SIO_000772 21130127 NP856894.RALaR3hnXgbT-GTobGfH11WcwfaP4HMFkHCrGpbFrLEHI130_provenance.
- NP856894.RALaR3hnXgbT-GTobGfH11WcwfaP4HMFkHCrGpbFrLEHI130_assertion wasDerivedFrom befree-2016 NP856894.RALaR3hnXgbT-GTobGfH11WcwfaP4HMFkHCrGpbFrLEHI130_provenance.
- NP856894.RALaR3hnXgbT-GTobGfH11WcwfaP4HMFkHCrGpbFrLEHI130_assertion wasGeneratedBy ECO_0000203 NP856894.RALaR3hnXgbT-GTobGfH11WcwfaP4HMFkHCrGpbFrLEHI130_provenance.