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
37812589 (PubMed )
Supplement: pgen.1010972.s017.xlsx › Table_S3
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
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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