Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.P509A
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GLDC

NM_000170.3:p.P509A

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

32421718 (PubMed )
Supplement: pcbi.1007871.s006.xlsx › S_T3_ddG

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

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

Narisawa A et al.

Human Molecular Genetics, 2012

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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."