Associated Papers
L-serine deficiency: on the properties of the Asn133Ser variant of human phosphoserine phosphatase.
Pollegioni L et al.
Scientific Reports, 2024
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Mutations responsible for 3-phosphoserine phosphatase deficiency.
Veiga-da-Cunha M et al.
European Journal of Human Genetics : Ejhg, 2004
Select a paper to view details