Varaico: Literature-Extracted Genetic Variants

Gene:APTX
Variant:p.N283D
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APTX

NM_001195248.2:p.N283D

Associated Papers

Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.

van Minkelen R et al.

Bmc Medical Genetics, 2015

26285866 (PubMed )
Supplement: 12881_2015_213_MOESM2_ESM.pdf
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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."