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Metadata
ID DOID:0050723
Name PSAT deficiency
Definition A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/, http://www.omim.org/entry/610992?search=610992&highlight=610992, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417
Xrefs

OMIM:610992

Synonyms

Phosphoserine aminotransferase deficiency [EXACT]

Parent Relationships

is_a serine deficiency

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