Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.Y24H
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SLC37A4

NM_001164277.2:p.Y24H

Associated Papers

Structural basis of glucose-6-phosphate transport by human SLC37A2.

Lai Q et al.

Nature Structural & Molecular Biology, 2026

Structural basis for transport and inhibition of the human glucose-6-phosphate transporter G6PT.

Xia Z et al.

Nature Communications, 2025

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

Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib.

Zhang Y et al.

The Journal of International Medical Research, 2019

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

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

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

WITHDRAWN: Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

Yuen YP et al.

Molecular Genetics and Metabolism, 2009

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

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

Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

Yuen YP et al.

Molecular Genetics and Metabolism, 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."