Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.F756del1
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GLDC

NM_000170.3:p.F756del1

Associated Papers

Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.

Kanno J et al.

Journal of Medical Genetics, 2007

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.

Kure S et al.

Human Mutation, 2006

Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.

Nakai T et al.

The Embo Journal, 2005

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).

Toone JR et al.

Molecular Genetics and Metabolism, 2002

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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."