Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_assertion> ?p ?o ?g. }
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- NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_assertion type Assertion NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_head.
- NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_assertion description "[Two heterozygous APTX sequence variants (p.L248M and p.D185E) were found in six families with ataxic phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.
- NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_assertion evidence source_evidence_literature NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.
- NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_assertion SIO_000772 21465257 NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.
- NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_assertion wasDerivedFrom befree-20140225 NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.
- NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_assertion wasGeneratedBy ECO_0000203 NP308618.RAgHCanoO5qvNxWACzOmHW7Mpj2L8z0Qp9RogZE2eUehQ130_provenance.