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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease apraxia
Comorbidity C0027765|neurological disorder
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PubMedID- 25637650 Aprataxin (aptx), a protein altered in the heritable neurological disorder ataxia with oculomotor apraxia 1 (aoa1), acts as a dna ligase "proofreader" to directly reverse amp-modified nucleic acid termini in dna- and rna-dna damage responses.

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