Nonketotic hyperglycinemia: Functional assessment of missense variants inGLDCto understand phenotypes of the disease
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
Journal
Volume
38
Issue
6
Pages
678 - 691
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