Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.N198I
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SLC37A4

NM_001164277.2:p.N198I

Associated Papers

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect.

Zappu A et al.

Genetic Testing and Molecular Biomarkers, 2010

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

Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.

Chen LY et al.

The Journal of Biological Chemistry, 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."