Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

Bravo-Alonso, I; Navarrete, R; Arribas-Carreira, L; Perona, A; Abia, D; Couce, ML; Garcia-Cazorla, A; Morais, A; Domingo, R; Ramos, MA; Swanson, MA; Van Hove, JLK; Ugarte, M; Perez, B; Perez-Cerda, C; Rodriguez-Pombo, P

Rodriguez-Pombo, P (reprint author), Univ Autonoma Madrid, Ctr Biol Mol Severo Ochoa, C Nicolas Cabrera 1, E-28049 Madrid, Spain.

HUMAN MUTATION, 2017; 38 (6): 678

Abstract

The rapid analysis of genomic data is providing effective mutational confirmation in patients with clinical and biochemical hallmarks of a specific di......

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