Varaico: Literature-Extracted Genetic Variants

Gene:PHGDH
Variant:p.A257fs
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PHGDH

NM_006623.4:p.A257fs

Associated Papers

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.

Cuinat S et al.

European Journal of Medical Genetics, 2023

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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."