Varaico: Literature-Extracted Genetic Variants

Gene:ABAT
Variant:p.Q66del1
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ABAT

NM_020686.6:p.Q66del1

Associated Papers

Personalized medicine approach confirms a milder case of ABAT deficiency.

Besse A et al.

Molecular Brain, 2016

The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.

Besse A et al.

Cell Metabolism, 2015

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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."