Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP203880.RAaioof2tUk32GY9cSmzKbPYXx2j3wcNuCcM30Naf3i2U130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP203880.RAaioof2tUk32GY9cSmzKbPYXx2j3wcNuCcM30Naf3i2U130_assertion type Assertion NP203880.RAaioof2tUk32GY9cSmzKbPYXx2j3wcNuCcM30Naf3i2U130_head.
- NP203880.RAaioof2tUk32GY9cSmzKbPYXx2j3wcNuCcM30Naf3i2U130_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." NP203880.RAaioof2tUk32GY9cSmzKbPYXx2j3wcNuCcM30Naf3i2U130_provenance.
- NP203880.RAaioof2tUk32GY9cSmzKbPYXx2j3wcNuCcM30Naf3i2U130_assertion evidence source_evidence_literature NP203880.RAaioof2tUk32GY9cSmzKbPYXx2j3wcNuCcM30Naf3i2U130_provenance.
- NP203880.RAaioof2tUk32GY9cSmzKbPYXx2j3wcNuCcM30Naf3i2U130_assertion SIO_000772 14534929 NP203880.RAaioof2tUk32GY9cSmzKbPYXx2j3wcNuCcM30Naf3i2U130_provenance.
- NP203880.RAaioof2tUk32GY9cSmzKbPYXx2j3wcNuCcM30Naf3i2U130_assertion wasDerivedFrom lhgdn-20090331 NP203880.RAaioof2tUk32GY9cSmzKbPYXx2j3wcNuCcM30Naf3i2U130_provenance.
- NP203880.RAaioof2tUk32GY9cSmzKbPYXx2j3wcNuCcM30Naf3i2U130_assertion wasGeneratedBy ECO_0000203 NP203880.RAaioof2tUk32GY9cSmzKbPYXx2j3wcNuCcM30Naf3i2U130_provenance.