Varaico: Literature-Extracted Genetic Variants

Gene:GLDC
Variant:p.A694P
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GLDC

NM_000170.3:p.A694P

Associated Papers

Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease.

Farris J et al.

Plos Genetics, 2021

33524012 (PubMed )
Supplement: pgen.1009307.s001.xlsx › Sheet1

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.s006.xlsx › S_T3_ddG

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

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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."