Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP538244.RALa21c-L0SNy_gKayH9A949SXN7OAGLY3gqUGKNLJ1-A130_assertion> ?p ?o ?g. }
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- NP538244.RALa21c-L0SNy_gKayH9A949SXN7OAGLY3gqUGKNLJ1-A130_assertion type Assertion NP538244.RALa21c-L0SNy_gKayH9A949SXN7OAGLY3gqUGKNLJ1-A130_head.
- NP538244.RALa21c-L0SNy_gKayH9A949SXN7OAGLY3gqUGKNLJ1-A130_assertion wasGeneratedBy ECO_0000203 NP538244.RALa21c-L0SNy_gKayH9A949SXN7OAGLY3gqUGKNLJ1-A130_provenance.
- NP538244.RALa21c-L0SNy_gKayH9A949SXN7OAGLY3gqUGKNLJ1-A130_assertion wasDerivedFrom befree-2016 NP538244.RALa21c-L0SNy_gKayH9A949SXN7OAGLY3gqUGKNLJ1-A130_provenance.
- NP538244.RALa21c-L0SNy_gKayH9A949SXN7OAGLY3gqUGKNLJ1-A130_assertion SIO_000772 16510324 NP538244.RALa21c-L0SNy_gKayH9A949SXN7OAGLY3gqUGKNLJ1-A130_provenance.
- NP538244.RALa21c-L0SNy_gKayH9A949SXN7OAGLY3gqUGKNLJ1-A130_assertion evidence source_evidence_literature NP538244.RALa21c-L0SNy_gKayH9A949SXN7OAGLY3gqUGKNLJ1-A130_provenance.
- NP538244.RALa21c-L0SNy_gKayH9A949SXN7OAGLY3gqUGKNLJ1-A130_assertion description "[Fabry disease (FD) is an X-linked inborn error of metabolism resulting from the deficient activity of alpha-galactosidase A which leads to the widespread deposition of glycosphingolipids in lysosomes, and to ischemic complications involving kidneys, heart and brain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP538244.RALa21c-L0SNy_gKayH9A949SXN7OAGLY3gqUGKNLJ1-A130_provenance.