Varaico: Literature-Extracted Genetic Variants

Gene:PHGDH
Variant:p.V444A
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PHGDH

NM_006623.4:p.V444A

Associated Papers

Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2.

Thirumal Kumar D et al.

Metabolic Brain Disease, 2018

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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."