Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.P153_I154insFs
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SLC37A4

NM_001164277.2:p.P153_I154insFs

Associated Papers

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

Rake JP et al.

European Journal of Pediatrics, 2000

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

Lei KJ et al.

The Journal of Clinical Investigation, 1995

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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."