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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLUD1

Variant:p.Q494R

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GLUD1

NM_005271.5:p.Q494R

hg38:chr10:87057704 T>C

Associated Papers

Hyperinsulinism in infancy: from basic science to clinical disease.

Dunne MJ et al.

Physiological Reviews, 2004

14715916 (PubMed )

Genetics of neonatal hyperinsulinism.

Glaser B et al.

Archives of Disease in Childhood. Fetal and Neonatal Edition, 2000

10685979 (PubMed )

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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."