Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.A202V
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GLDC

NM_000170.3:p.A202V

Associated Papers

Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.

Farris J et al.

Plos Genetics, 2021

Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.

Farris J et al.

Plos Computational Biology, 2020

Mutations of the glycine cleavage system genes possibly affect the negative symptoms of schizophrenia through metabolomic profile changes.

Yoshikawa A et al.

Psychiatry and Clinical Neurosciences, 2018

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

Coughlin CR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia.

Bjoraker KJ et al.

The Journal of Pediatrics, 2016

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Swanson MA et al.

Annals of Neurology, 2015

Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.

Azize NA et al.

Journal of Human Genetics, 2014

Two novel missense mutations observed in nonketotic hyperglycinemia.

Yoon IA et al.

Pediatric Neurology, 2012

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.

Brunel-Guitton C et al.

Molecular Genetics and Metabolism, 2011

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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."