Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_assertion type Assertion NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_head.
- NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_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." NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.
- NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_assertion evidence source_evidence_curated NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.
- NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_assertion SIO_000772 22326532 NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.
- NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_assertion wasDerivedFrom uniprot-20150221 NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.
- NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_assertion wasGeneratedBy ECO_0000218 NP1910.RAJniJt3firdjGoPbEd-MCNs-v65JnCRCkYUVhWjUmRI0130_provenance.