Varaico: Literature-Extracted Genetic Variants

Gene:SLC37A4
Variant:p.A148V
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SLC37A4

NM_001164277.2:p.A148V

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

Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib.

Du C et al.

Bmc Medical Genomics, 2021

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

Chou JY et al.

Journal of Inherited Metabolic Disease, 2018

The Physiopathological Role of the Exchangers Belonging to the SLC37 Family.

Cappello AR et al.

Frontiers in Chemistry, 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

The SLC37 family of sugar-phosphate/phosphate exchangers.

Chou JY et al.

Current Topics in Membranes, 2014

Hepatocyte transplantation for glycogen storage disease type Ib.

Lee KW et al.

Cell Transplantation, 2007

A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

Han SH et al.

Journal of Korean Medical Science, 2005

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