Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.R28H
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SLC37A4

NM_001164277.2:p.R28H

Associated Papers

Structural insight into the glucose-6-phosphate transport by G6PT1 and inhibition mechanism of CGA.

Chen Q et al.

Science Advances, 2026

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

Xia Z et al.

Nature Communications, 2025

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.

Al-Hussaini A et al.

Plos One, 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

Longterm Outcomes of Living Donor Liver Transplantation for Glycogen Storage Disease Type 1b.

Shimizu S et al.

Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2020

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

Chou JY et al.

Journal of Inherited Metabolic Disease, 2018

Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.

Choi R et al.

Annals of Laboratory Medicine, 2017

Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b.

Lee KJ et al.

Pediatric Gastroenterology, Hepatology & Nutrition, 2016

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

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

Identification of glucose-6-phosphate transporter as a key regulator functioning at the autophagy initiation step.

Ahn HH et al.

Febs Letters, 2015

Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib.

Pan CJ 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

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

Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I.

Melis D et al.

The Journal of Pediatrics, 2007

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

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

The human sugar-phosphate/phosphate exchanger family SLC37.

Bartoloni L et al.

Pflugers Archiv : European Journal of Physiology, 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

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

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

Janecke AR et al.

Human Genetics, 2000

Transmembrane topology of human glucose 6-phosphate transporter.

Pan CJ et al.

The Journal of Biological Chemistry, 1999

Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

Hiraiwa H et al.

The Journal of Biological Chemistry, 1999

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