Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP584541.RATPFaChi734LY2M4D2rPUQPfjDH6s9UxVhVhvOqRoIko130_assertion> ?p ?o ?g. }
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- NP584541.RATPFaChi734LY2M4D2rPUQPfjDH6s9UxVhVhvOqRoIko130_assertion type Assertion NP584541.RATPFaChi734LY2M4D2rPUQPfjDH6s9UxVhVhvOqRoIko130_head.
- NP584541.RATPFaChi734LY2M4D2rPUQPfjDH6s9UxVhVhvOqRoIko130_assertion wasGeneratedBy ECO_0000203 NP584541.RATPFaChi734LY2M4D2rPUQPfjDH6s9UxVhVhvOqRoIko130_provenance.
- NP584541.RATPFaChi734LY2M4D2rPUQPfjDH6s9UxVhVhvOqRoIko130_assertion wasDerivedFrom befree-20150227 NP584541.RATPFaChi734LY2M4D2rPUQPfjDH6s9UxVhVhvOqRoIko130_provenance.
- NP584541.RATPFaChi734LY2M4D2rPUQPfjDH6s9UxVhVhvOqRoIko130_assertion SIO_000772 14685826 NP584541.RATPFaChi734LY2M4D2rPUQPfjDH6s9UxVhVhvOqRoIko130_provenance.
- NP584541.RATPFaChi734LY2M4D2rPUQPfjDH6s9UxVhVhvOqRoIko130_assertion evidence source_evidence_literature NP584541.RATPFaChi734LY2M4D2rPUQPfjDH6s9UxVhVhvOqRoIko130_provenance.
- NP584541.RATPFaChi734LY2M4D2rPUQPfjDH6s9UxVhVhvOqRoIko130_assertion description "[Alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency (Schindler/Kanzaki disease) is a clinically and pathologically heterogeneous genetic disease with a wide spectrum including an early onset neuroaxonal dystrophy (Schindler disease) and late onset angiokeratoma corporis diffusum (Kanzaki disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP584541.RATPFaChi734LY2M4D2rPUQPfjDH6s9UxVhVhvOqRoIko130_provenance.