Article

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

2020-07-29

Abstract excerpt

Glycine decarboxylase (GLDC) is a mitochondrial protein, hundreds of mutations in which cause a neurometabolic disorder Non-ketotic Hyperglycinemia (NKH), associated with elevation of plasma glycine. But why a mutation induces severe or attenuated neurological disease is poorly understood. We combined a human multiparametric mutation scale that separates severe from attenuated clinical, neurological disease, with...

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Identifiers and source

Literature Corpus work: 7551be08-9373-5772-ae92-fcb46a3039a8
DOI: 10.1101/2020.07.28.225292

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