Varaico: Literature-Extracted Genetic Variants

Gene:FES
Variant:p.R326R
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FES

NM_002005.4:p.R326R

Associated Papers

Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.

Santer R et al.

Human Genetics, 2001

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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."