Varaico: Literature-Extracted Genetic Variants

Gene:APTX
Variant:p.E232fs
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APTX

NM_001195248.2:p.E232fs

Associated Papers

Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents.

Ababneh NA et al.

Plos One, 2020

Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.

Yokoseki A et al.

Brain : a Journal of Neurology, 2011

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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."