Associated Papers
Phosphoserine aminotransferase deficiency diagnosed by whole-exome sequencing and LC-MS/MS reanalysis: A case report and review of literature.
Li J et al.
Molecular Genetics & Genomic Medicine, 2024
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
Xie MJ et al.
Plos Genetics, 2023
Phosphoserine Aminotransferase Pathogenetic Variants in Serine Deficiency Disorders: A Functional Characterization.
Marchesani F et al.
Biomolecules, 2023
Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps.
Xie MJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Juvenile-onset PSAT1-related neuropathy: A milder phenotype of serine deficiency disorder.
Shen Y et al.
Frontiers in Genetics, 2022
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.
Sirr A et al.
Journal of Inherited Metabolic Disease, 2020
On the phenotypic spectrum of serine biosynthesis defects.
El-Hattab AW et al.
Journal of Inherited Metabolic Disease, 2016
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Acuna-Hidalgo R et al.
American Journal of Human Genetics, 2014
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