Condition: Proline dehydrogenase deficiency
rs137852934
in
PRODH
gene and
Proline dehydrogenase deficiency
PMID 17135275
2007 Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
PMID 12217952
2002 PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.
PMID 15662599
2005 Functional consequences of PRODH missense mutations.