Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.Q265L
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GLDC

NM_000170.3:p.Q265L

Associated Papers

Serine and glycine physiology reversibly modulate retinal and peripheral nerve function.

Lim EW et al.

Cell Metabolism, 2024

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

Farris J et al.

Plos Computational Biology, 2020

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

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.

Conter C et al.

Journal of Inherited Metabolic Disease, 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."