Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.A347fs
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SLC37A4

NM_001164277.2:p.A347fs

Associated Papers

A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

Han SH et al.

Journal of Korean Medical Science, 2005

Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.

Santer R et al.

Gastroenterology, 2003

Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

Santer R et al.

Human Mutation, 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."