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
Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
Debs S et al.
American Journal of Medical Genetics. Part A, 2021
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Gu F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30700791 (PubMed )
Supplement: NIHMS1521482-supplement-Large_Excel_File_1.xlsx › ConfirmedDiagnosesAgreed
Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report.
Wang B et al.
Experimental and Therapeutic Medicine, 2018
[A case of infantile neuroaxonal dystrophy].
Wu Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004
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