Nonketotic hyperglycinemia: Functional assessment of missense variants inGLDCto understand phenotypes of the disease

Volume: 38, Issue: 6, Pages: 678 - 691
Published: Mar 20, 2017
Abstract
The rapid analysis of genomic data is providing effective mutational confirmation in patients with clinical and biochemical hallmarks of a specific disease. This is the case for nonketotic hyperglycinemia (NKH), a Mendelian disorder causing seizures in neonates and early-infants, primarily due to mutations in the GLDC gene. However, understanding the impact of missense variants identified in this gene is a major challenge for the application of...
Paper Details
Title
Nonketotic hyperglycinemia: Functional assessment of missense variants inGLDCto understand phenotypes of the disease
Published Date
Mar 20, 2017
Volume
38
Issue
6
Pages
678 - 691
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