Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.Y161C
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GLDC

NM_000170.3:p.Y161C

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

Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia.

Mohamed S et al.

Pediatrics and Neonatology, 2015

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Swanson MA et al.

Annals of Neurology, 2015

26179960 (PubMed )
Supplement: ANA-78-606-s001.pdf

Two novel missense mutations in nonketotic hyperglycinemia.

Yilmaz BS et al.

Journal of Child Neurology, 2015

Two novel missense mutations observed in nonketotic hyperglycinemia.

Yoon IA et al.

Pediatric Neurology, 2012

Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation.

Korman SH et al.

Annals of Neurology, 2006

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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."