Varaico: Literature-Extracted Genetic Variants

Gene:GLUD1
Variant:p.G499R
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GLUD1

NM_005271.5:p.G499R

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

Analysis on the pathogenic genes of 60 Chinese children with congenital hyperinsulinemia.

Xu ZD et al.

Endocrine Connections, 2018

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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."