Varaico: Literature-Extracted Genetic Variants

Gene:GNPAT
Variant:p.D190Splc
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GNPAT

NM_014236.4:p.D190Splc

Associated Papers

Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

Struys EA et al.

Annals of Neurology, 2005

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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."