Article
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
PLoS genetics - 1 Oct 2023
Xie Michael J, Cromie Gareth A, Owens Katherine, Timour Martin S, Tang Michelle, Kutz J Nathan, El-Hattab Ayman W, McLaughlin Richard N, Dudley Aimée M
Abstract excerpt
Reduced activity of the enzymes encoded by PHGDH, PSAT1, and PSPH causes a set of ultrarare, autosomal recessive diseases known as serine biosynthesis defects. These diseases present in a broad phenotypic spectrum: at the severe end is Neu-Laxova syndrome, in the intermediate range are infantile serine biosynthesis defects with severe neurological manifestations and growth deficiency, and at the mild end is...
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