Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP539950.RAeA1ZKWbMvIqxfnueMblDmnIiyf0TLSSl0dxUi7a2OxQ130_assertion> ?p ?o ?g. }
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- NP539950.RAeA1ZKWbMvIqxfnueMblDmnIiyf0TLSSl0dxUi7a2OxQ130_assertion type Assertion NP539950.RAeA1ZKWbMvIqxfnueMblDmnIiyf0TLSSl0dxUi7a2OxQ130_head.
- NP539950.RAeA1ZKWbMvIqxfnueMblDmnIiyf0TLSSl0dxUi7a2OxQ130_assertion wasGeneratedBy ECO_0000203 NP539950.RAeA1ZKWbMvIqxfnueMblDmnIiyf0TLSSl0dxUi7a2OxQ130_provenance.
- NP539950.RAeA1ZKWbMvIqxfnueMblDmnIiyf0TLSSl0dxUi7a2OxQ130_assertion wasDerivedFrom befree-2016 NP539950.RAeA1ZKWbMvIqxfnueMblDmnIiyf0TLSSl0dxUi7a2OxQ130_provenance.
- NP539950.RAeA1ZKWbMvIqxfnueMblDmnIiyf0TLSSl0dxUi7a2OxQ130_assertion SIO_000772 16533976 NP539950.RAeA1ZKWbMvIqxfnueMblDmnIiyf0TLSSl0dxUi7a2OxQ130_provenance.
- NP539950.RAeA1ZKWbMvIqxfnueMblDmnIiyf0TLSSl0dxUi7a2OxQ130_assertion evidence source_evidence_literature NP539950.RAeA1ZKWbMvIqxfnueMblDmnIiyf0TLSSl0dxUi7a2OxQ130_provenance.
- NP539950.RAeA1ZKWbMvIqxfnueMblDmnIiyf0TLSSl0dxUi7a2OxQ130_assertion description "[Classic Fabry disease, an X-linked recessive lysosomal storage disease due to the deficient activity of alpha-galactosidase A, typically presents in early childhood with acroparesthesias, angiokeratomas, hypohidrosis, and corneal dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP539950.RAeA1ZKWbMvIqxfnueMblDmnIiyf0TLSSl0dxUi7a2OxQ130_provenance.