Varaico: Literature-Extracted Genetic Variants

Gene:GLUD1
Variant:p.G149A
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GLUD1

NM_005271.5:p.G149A

Associated Papers

Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients.

Su C et al.

Journal of Diabetes Research, 2018

Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the glutamate dehydrogenase 1 gene.

Chik KK et al.

Journal of Paediatrics and Child Health, 2008

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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."