Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.K123*
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SLC37A4

NM_001164277.2:p.K123*

Associated Papers

Molecular biology and gene therapy for glycogen storage disease type Ib.

Chou JY et al.

Journal of Inherited Metabolic Disease, 2018

Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.

Chen SY et al.

Molecular Genetics and Metabolism, 2008

The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic.

Chen SY et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008

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

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

Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.

Chen LY et al.

Human Molecular Genetics, 2002

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

Matern D et al.

European Journal of Pediatrics, 2002

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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."