KEGG   VARIANT: 5723v1
Entry
5723v1                      Variant                                
Name
PSPH deficiency
Type
Loss of function
Gene
PSPH  phosphoserine phosphatase [KO:K01079]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 172480
Network
nt06033  Glycine, serine and arginine metabolism
Disease
H02116  Phosphoserine phosphatase deficiency
Reference
  Authors
Vincent JB, Jamil T, Rafiq MA, Anwar Z, Ayaz M, Hameed A, Nasr T, Naeem F, Khattak NA, Carter M, Ahmed I, John P, Wiame E, Andrade DM, Schaftingen EV, Mir A, Ayub M
  Title
Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan.
  Journal
Clin Genet 87:296-8 (2015)
DOI:10.1111/cge.12445
LinkDB

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