Varaico: Literature-Extracted Genetic Variants

Gene:APTX
Variant:p.S281fs
Back to variants list

APTX

NM_001195248.2:p.S281fs

Associated Papers

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

Yokoseki A et al.

Brain : a Journal of Neurology, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."