Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_assertion> ?p ?o ?g. }
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- NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_assertion type Assertion NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_head.
- NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_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." NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.
- NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_assertion evidence source_evidence_literature NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.
- NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_assertion SIO_000772 14534929 NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.
- NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_assertion wasDerivedFrom lhgdn-20090331 NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.
- NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_assertion wasGeneratedBy ECO_0000203 NP173396.RAIL7cdR7SOpJHGPinozYH2b5F-R_D-lUjI1dCrL4y9Ic130_provenance.