Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP928025.RAKBW686nFmszC51sLZZKU8KMmw9pPCqwkWGNV6io96QY130_assertion> ?p ?o ?g. }
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- NP928025.RAKBW686nFmszC51sLZZKU8KMmw9pPCqwkWGNV6io96QY130_assertion type Assertion NP928025.RAKBW686nFmszC51sLZZKU8KMmw9pPCqwkWGNV6io96QY130_head.
- NP928025.RAKBW686nFmszC51sLZZKU8KMmw9pPCqwkWGNV6io96QY130_assertion description "[Mutations in the human ATGL gene are associated with neutral lipid storage disease with myopathy, a rare genetic disease characterized by excessive accumulation of TG in multiple tissues.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP928025.RAKBW686nFmszC51sLZZKU8KMmw9pPCqwkWGNV6io96QY130_provenance.
- NP928025.RAKBW686nFmszC51sLZZKU8KMmw9pPCqwkWGNV6io96QY130_assertion evidence source_evidence_literature NP928025.RAKBW686nFmszC51sLZZKU8KMmw9pPCqwkWGNV6io96QY130_provenance.
- NP928025.RAKBW686nFmszC51sLZZKU8KMmw9pPCqwkWGNV6io96QY130_assertion SIO_000772 21828047 NP928025.RAKBW686nFmszC51sLZZKU8KMmw9pPCqwkWGNV6io96QY130_provenance.
- NP928025.RAKBW686nFmszC51sLZZKU8KMmw9pPCqwkWGNV6io96QY130_assertion wasDerivedFrom befree-20150227 NP928025.RAKBW686nFmszC51sLZZKU8KMmw9pPCqwkWGNV6io96QY130_provenance.
- NP928025.RAKBW686nFmszC51sLZZKU8KMmw9pPCqwkWGNV6io96QY130_assertion wasGeneratedBy ECO_0000203 NP928025.RAKBW686nFmszC51sLZZKU8KMmw9pPCqwkWGNV6io96QY130_provenance.