Varaico: Literature-Extracted Genetic Variants

Gene:GLUD1
Variant:p.H507R
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GLUD1

NM_005271.5:p.H507R

Associated Papers

Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients.

De Lonlay P et al.

Pediatric Research, 2001

Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators.

Stanley CA et al.

Diabetes, 2000

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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."