Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.W137*
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SLC37A4

NM_001164277.2:p.W137*

Associated Papers

Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib.

Letkemann R et al.

International Immunopharmacology, 2017

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.

Melis D et al.

European Journal of Pediatrics, 2005

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

Matern D et al.

European Journal of Pediatrics, 2002

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."