Varaico: Literature-Extracted Genetic Variants

Gene:SLC2A1
Variant:p.S113S
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SLC2A1

NM_006516.4:p.S113S

Associated Papers

Molecular biology and gene therapy for glycogen storage disease type Ib.

Chou JY et al.

Journal of Inherited Metabolic Disease, 2018

Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib.

Almqvist J et al.

Biochemistry, 2004

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

Veiga-da-Cunha M et al.

European Journal of Human Genetics : Ejhg, 1999

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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."