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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APTX

Variant:p.P271S

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APTX

NM_001195248.2:p.P271S

hg38:chr9:32974521 G>A

Associated Papers

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

Horvath R et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2012

22036850 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."