Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP651248.RAINkgd7QgBIJpwNUacVHq7uJq8aiYkMh_DoK96v5FYjc130_assertion> ?p ?o ?g. }
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- NP651248.RAINkgd7QgBIJpwNUacVHq7uJq8aiYkMh_DoK96v5FYjc130_assertion type Assertion NP651248.RAINkgd7QgBIJpwNUacVHq7uJq8aiYkMh_DoK96v5FYjc130_head.
- NP651248.RAINkgd7QgBIJpwNUacVHq7uJq8aiYkMh_DoK96v5FYjc130_assertion description "[Compilation of the clinical records of 43 patients with documented mutation in the alpha-TTP gene revealed differences from Friedreich ataxia: cardiomyopathy was found in only 19% of cases, whereas head titubation was found in 28% of cases and dystonia in an additional 13%.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP651248.RAINkgd7QgBIJpwNUacVHq7uJq8aiYkMh_DoK96v5FYjc130_provenance.
- NP651248.RAINkgd7QgBIJpwNUacVHq7uJq8aiYkMh_DoK96v5FYjc130_assertion evidence source_evidence_literature NP651248.RAINkgd7QgBIJpwNUacVHq7uJq8aiYkMh_DoK96v5FYjc130_provenance.
- NP651248.RAINkgd7QgBIJpwNUacVHq7uJq8aiYkMh_DoK96v5FYjc130_assertion SIO_000772 9463307 NP651248.RAINkgd7QgBIJpwNUacVHq7uJq8aiYkMh_DoK96v5FYjc130_provenance.
- NP651248.RAINkgd7QgBIJpwNUacVHq7uJq8aiYkMh_DoK96v5FYjc130_assertion wasDerivedFrom befree-20140225 NP651248.RAINkgd7QgBIJpwNUacVHq7uJq8aiYkMh_DoK96v5FYjc130_provenance.
- NP651248.RAINkgd7QgBIJpwNUacVHq7uJq8aiYkMh_DoK96v5FYjc130_assertion wasGeneratedBy ECO_0000203 NP651248.RAINkgd7QgBIJpwNUacVHq7uJq8aiYkMh_DoK96v5FYjc130_provenance.