Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.C176_V177insFs
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SLC37A4

NM_001164277.2:p.C176_V177insFs

Associated Papers

Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.

Wang Z et al.

The Journal of International Medical Research, 2023

Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.

Trioche P et al.

Journal of Inherited Metabolic Disease, 2004

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

Matern D et al.

European Journal of Pediatrics, 2002

Acute rheumatic fever in a patient with glycogen storage disease type Ib: causal or coincidental simultaneous occurrence?

Ndagijimana J et al.

European Journal of Pediatrics, 2002

Mutation analysis in glycogen storage disease type 1 non-a.

Janecke AR et al.

Human Genetics, 2000

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."