Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.E503A
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GLDC

NM_000170.3:p.E503A

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

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600

A novel glycine decarboxylase gene mutation in an Indian family with nonketotic hyperglycinemia.

Love JM et al.

Journal of Child Neurology, 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."