Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP324364.RADh3uG7cC0-bw0Jk9U7o5ajn3GXRAU8TRiyvSOEoZQ7M130_assertion> ?p ?o ?g. }
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- NP324364.RADh3uG7cC0-bw0Jk9U7o5ajn3GXRAU8TRiyvSOEoZQ7M130_assertion type Assertion NP324364.RADh3uG7cC0-bw0Jk9U7o5ajn3GXRAU8TRiyvSOEoZQ7M130_head.
- NP324364.RADh3uG7cC0-bw0Jk9U7o5ajn3GXRAU8TRiyvSOEoZQ7M130_assertion description "[Globoid cell leukodystrophy (Krabbe disease) is a severe leukodystrophy caused by mutations in the galactocerebrosidase (GALC) gene leading to extremely low (less than 5% of normal activity) GALC activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP324364.RADh3uG7cC0-bw0Jk9U7o5ajn3GXRAU8TRiyvSOEoZQ7M130_provenance.
- NP324364.RADh3uG7cC0-bw0Jk9U7o5ajn3GXRAU8TRiyvSOEoZQ7M130_assertion evidence source_evidence_literature NP324364.RADh3uG7cC0-bw0Jk9U7o5ajn3GXRAU8TRiyvSOEoZQ7M130_provenance.
- NP324364.RADh3uG7cC0-bw0Jk9U7o5ajn3GXRAU8TRiyvSOEoZQ7M130_assertion SIO_000772 11461188 NP324364.RADh3uG7cC0-bw0Jk9U7o5ajn3GXRAU8TRiyvSOEoZQ7M130_provenance.
- NP324364.RADh3uG7cC0-bw0Jk9U7o5ajn3GXRAU8TRiyvSOEoZQ7M130_assertion wasDerivedFrom befree-2016 NP324364.RADh3uG7cC0-bw0Jk9U7o5ajn3GXRAU8TRiyvSOEoZQ7M130_provenance.
- NP324364.RADh3uG7cC0-bw0Jk9U7o5ajn3GXRAU8TRiyvSOEoZQ7M130_assertion wasGeneratedBy ECO_0000203 NP324364.RADh3uG7cC0-bw0Jk9U7o5ajn3GXRAU8TRiyvSOEoZQ7M130_provenance.