Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.K819_M820Splc
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GLDC

NM_000170.3:p.K819_M820Splc

Associated Papers

Natural history and outcome of nonketotic hyperglycinemia in China.

Zhou Z et al.

Frontiers in Neurology, 2024

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.s007.xlsx › S4A_Patient_COS_s

Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.

Liu S et al.

Archivos Argentinos De Pediatria, 2017

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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."