Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_assertion> ?p ?o ?g. }
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- NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_assertion type Assertion NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_head.
- NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_assertion description "[Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.
- NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_assertion evidence source_evidence_literature NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.
- NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_assertion SIO_000772 22326532 NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.
- NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_assertion wasDerivedFrom befree-2016 NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.
- NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_assertion wasGeneratedBy ECO_0000203 NP960204.RAb8HMDUsbk7WnPWLMz_pGz7KWpCGCuq2HfPVdWcXpMZs130_provenance.