Varaico: Literature-Extracted Genetic Variants

Gene:PHGDH
Variant:p.S55F
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PHGDH

NM_006623.4:p.S55F

Associated Papers

Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review.

Fu J et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023

L-serine synthesis via the phosphorylated pathway in humans.

Murtas G et al.

Cellular and Molecular Life Sciences : Cmls, 2020

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.

Poli A et al.

American Journal of Medical Genetics. Part A, 2017

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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."