Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP990505.RAzWSO6vYFwPHjLRLlyIlYmV9HkCdRfTOOVnV694x8Bxg130_assertion> ?p ?o ?g. }
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- NP990505.RAzWSO6vYFwPHjLRLlyIlYmV9HkCdRfTOOVnV694x8Bxg130_assertion type Assertion NP990505.RAzWSO6vYFwPHjLRLlyIlYmV9HkCdRfTOOVnV694x8Bxg130_head.
- NP990505.RAzWSO6vYFwPHjLRLlyIlYmV9HkCdRfTOOVnV694x8Bxg130_assertion description "[An acid-ceramidase activity below 10% results in Farber disease, an early-onset disease starting with subcutaneous lipogranulomata, joint pain, and hoarseness of the voice, whereas a higher residual activity might be responsible for SMA-PME, a later-onset phenotype restricted to the CNS and starting with lower-motor-neuron disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP990505.RAzWSO6vYFwPHjLRLlyIlYmV9HkCdRfTOOVnV694x8Bxg130_provenance.
- NP990505.RAzWSO6vYFwPHjLRLlyIlYmV9HkCdRfTOOVnV694x8Bxg130_assertion evidence source_evidence_literature NP990505.RAzWSO6vYFwPHjLRLlyIlYmV9HkCdRfTOOVnV694x8Bxg130_provenance.
- NP990505.RAzWSO6vYFwPHjLRLlyIlYmV9HkCdRfTOOVnV694x8Bxg130_assertion SIO_000772 22703880 NP990505.RAzWSO6vYFwPHjLRLlyIlYmV9HkCdRfTOOVnV694x8Bxg130_provenance.
- NP990505.RAzWSO6vYFwPHjLRLlyIlYmV9HkCdRfTOOVnV694x8Bxg130_assertion wasDerivedFrom befree-2016 NP990505.RAzWSO6vYFwPHjLRLlyIlYmV9HkCdRfTOOVnV694x8Bxg130_provenance.
- NP990505.RAzWSO6vYFwPHjLRLlyIlYmV9HkCdRfTOOVnV694x8Bxg130_assertion wasGeneratedBy ECO_0000203 NP990505.RAzWSO6vYFwPHjLRLlyIlYmV9HkCdRfTOOVnV694x8Bxg130_provenance.