Varaico: Literature-Extracted Genetic Variants

Gene:PHGDH
Variant:p.V376L
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PHGDH

NM_006623.4:p.V376L

Associated Papers

General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.

Spiekerkoetter U et al.

Pediatric Research, 2004

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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."