Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.Q734_V735Splc
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GLDC

NM_000170.3:p.Q734_V735Splc

Associated Papers

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia.

Swanson MA et al.

Annals of Neurology, 2015

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.

Ezgu F et al.

Metabolic Brain Disease, 2014

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

Kure S et al.

Human Mutation, 2006

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."