Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP253586.RAyoYpGR-d_Q1WwPum--y5qZx4cYGzv3V0yTIv50xOvBs130_assertion> ?p ?o ?g. }
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- NP253586.RAyoYpGR-d_Q1WwPum--y5qZx4cYGzv3V0yTIv50xOvBs130_assertion type Assertion NP253586.RAyoYpGR-d_Q1WwPum--y5qZx4cYGzv3V0yTIv50xOvBs130_head.
- NP253586.RAyoYpGR-d_Q1WwPum--y5qZx4cYGzv3V0yTIv50xOvBs130_assertion description "[Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP253586.RAyoYpGR-d_Q1WwPum--y5qZx4cYGzv3V0yTIv50xOvBs130_provenance.
- NP253586.RAyoYpGR-d_Q1WwPum--y5qZx4cYGzv3V0yTIv50xOvBs130_assertion evidence source_evidence_literature NP253586.RAyoYpGR-d_Q1WwPum--y5qZx4cYGzv3V0yTIv50xOvBs130_provenance.
- NP253586.RAyoYpGR-d_Q1WwPum--y5qZx4cYGzv3V0yTIv50xOvBs130_assertion SIO_000772 21893389 NP253586.RAyoYpGR-d_Q1WwPum--y5qZx4cYGzv3V0yTIv50xOvBs130_provenance.
- NP253586.RAyoYpGR-d_Q1WwPum--y5qZx4cYGzv3V0yTIv50xOvBs130_assertion wasDerivedFrom befree-20150227 NP253586.RAyoYpGR-d_Q1WwPum--y5qZx4cYGzv3V0yTIv50xOvBs130_provenance.
- NP253586.RAyoYpGR-d_Q1WwPum--y5qZx4cYGzv3V0yTIv50xOvBs130_assertion wasGeneratedBy ECO_0000203 NP253586.RAyoYpGR-d_Q1WwPum--y5qZx4cYGzv3V0yTIv50xOvBs130_provenance.