Associated Papers
L-serine deficiency: on the properties of the Asn133Ser variant of human phosphoserine phosphatase.
Pollegioni L et al.
Scientific Reports, 2024
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants
L-serine synthesis via the phosphorylated pathway in humans.
Murtas G et al.
Cellular and Molecular Life Sciences : Cmls, 2020
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
On the phenotypic spectrum of serine biosynthesis defects.
El-Hattab AW et al.
Journal of Inherited Metabolic Disease, 2016
Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.
Vincent JB et al.
Clinical Genetics, 2015
Mutations responsible for 3-phosphoserine phosphatase deficiency.
Veiga-da-Cunha M et al.
European Journal of Human Genetics : Ejhg, 2004
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