Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_assertion> ?p ?o ?g. }
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- NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_assertion type Assertion NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_head.
- NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_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." NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.
- NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_assertion evidence source_evidence_literature NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.
- NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_assertion SIO_000772 22326532 NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.
- NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_assertion wasDerivedFrom befree-20150227 NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.
- NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_assertion wasGeneratedBy ECO_0000203 NP260051.RABVCeU7Ddtaffjz_xfXUj1M3fIlHYfdXAXSnLYgCPfAU130_provenance.