Varaico: Literature-Extracted Genetic Variants

Gene:GLUD1
Variant:p.P489L
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GLUD1

NM_005271.5:p.P489L

Associated Papers

Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1.

Aftab S et al.

Endocrine Connections, 2023

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.

Hopkins JJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.

Aka S et al.

The Turkish Journal of Pediatrics, 2016

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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."