Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP201741.RAtfmFUaaILn04oeAoeM55vQ5kuqMxSNYWUNMkTwBVbHw130_assertion> ?p ?o ?g. }
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- NP201741.RAtfmFUaaILn04oeAoeM55vQ5kuqMxSNYWUNMkTwBVbHw130_assertion type Assertion NP201741.RAtfmFUaaILn04oeAoeM55vQ5kuqMxSNYWUNMkTwBVbHw130_head.
- NP201741.RAtfmFUaaILn04oeAoeM55vQ5kuqMxSNYWUNMkTwBVbHw130_assertion description "[A 14 year old girl presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia.and homozygous for an insertion mutation of aprataxin (APTX), 689 ins T.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP201741.RAtfmFUaaILn04oeAoeM55vQ5kuqMxSNYWUNMkTwBVbHw130_provenance.
- NP201741.RAtfmFUaaILn04oeAoeM55vQ5kuqMxSNYWUNMkTwBVbHw130_assertion evidence source_evidence_literature NP201741.RAtfmFUaaILn04oeAoeM55vQ5kuqMxSNYWUNMkTwBVbHw130_provenance.
- NP201741.RAtfmFUaaILn04oeAoeM55vQ5kuqMxSNYWUNMkTwBVbHw130_assertion SIO_000772 14534929 NP201741.RAtfmFUaaILn04oeAoeM55vQ5kuqMxSNYWUNMkTwBVbHw130_provenance.
- NP201741.RAtfmFUaaILn04oeAoeM55vQ5kuqMxSNYWUNMkTwBVbHw130_assertion wasDerivedFrom lhgdn-20090331 NP201741.RAtfmFUaaILn04oeAoeM55vQ5kuqMxSNYWUNMkTwBVbHw130_provenance.
- NP201741.RAtfmFUaaILn04oeAoeM55vQ5kuqMxSNYWUNMkTwBVbHw130_assertion wasGeneratedBy ECO_0000203 NP201741.RAtfmFUaaILn04oeAoeM55vQ5kuqMxSNYWUNMkTwBVbHw130_provenance.