Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP705276.RAuMqY0ZWl6A519FxdACcfxqfKfWaM409C_e877r4EOa8130_assertion> ?p ?o ?g. }
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- NP705276.RAuMqY0ZWl6A519FxdACcfxqfKfWaM409C_e877r4EOa8130_assertion type Assertion NP705276.RAuMqY0ZWl6A519FxdACcfxqfKfWaM409C_e877r4EOa8130_head.
- NP705276.RAuMqY0ZWl6A519FxdACcfxqfKfWaM409C_e877r4EOa8130_assertion description "[Mutations in the TOR1A gene, primarily a 3-bp (GAG) deletion are associated with early-onset autosomal dominant torsion dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP705276.RAuMqY0ZWl6A519FxdACcfxqfKfWaM409C_e877r4EOa8130_provenance.
- NP705276.RAuMqY0ZWl6A519FxdACcfxqfKfWaM409C_e877r4EOa8130_assertion evidence source_evidence_literature NP705276.RAuMqY0ZWl6A519FxdACcfxqfKfWaM409C_e877r4EOa8130_provenance.
- NP705276.RAuMqY0ZWl6A519FxdACcfxqfKfWaM409C_e877r4EOa8130_assertion SIO_000772 19028553 NP705276.RAuMqY0ZWl6A519FxdACcfxqfKfWaM409C_e877r4EOa8130_provenance.
- NP705276.RAuMqY0ZWl6A519FxdACcfxqfKfWaM409C_e877r4EOa8130_assertion wasDerivedFrom befree-2016 NP705276.RAuMqY0ZWl6A519FxdACcfxqfKfWaM409C_e877r4EOa8130_provenance.
- NP705276.RAuMqY0ZWl6A519FxdACcfxqfKfWaM409C_e877r4EOa8130_assertion wasGeneratedBy ECO_0000203 NP705276.RAuMqY0ZWl6A519FxdACcfxqfKfWaM409C_e877r4EOa8130_provenance.