Varaico: Literature-Extracted Genetic Variants

Gene:PRODH
Variant:p.T275N
Back to variants list

PRODH

NM_016335.6:p.T275N

Associated Papers

Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.

Koshiba S et al.

Communications Biology, 2020

ALDH4A1 expression levels are elevated in postmortem brains of patients with schizophrenia and are associated with genetic variants in enzymes related to proline metabolism.

Nagaoka A et al.

Journal of Psychiatric Research, 2020

The structural origin of metabolic quantitative diversity.

Koshiba S et al.

Scientific Reports, 2016

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

Richard AC et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2016

Long-term neuropsychiatric follow-up in hyperprolinemia type I.

Di Rosa G et al.

Psychiatric Genetics, 2014

Type I hyperprolinemia: genotype/phenotype correlations.

Guilmatre A et al.

Human Mutation, 2010

Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.

Di Rosa G et al.

Psychiatric Genetics, 2008

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.

Raux G et al.

Human Molecular Genetics, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."