Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.G188Splc
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G6PC1

NM_000151.4:p.G188Splc

Associated Papers

Long-Term Treatment of Lipoprotein Lipase Deficiency with Medium-Chain Triglyceride-Enriched Diet: A Case Series.

Aljouda L et al.

Nutrients, 2023

The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients.

Pinheiro FC et al.

Molecular Genetics and Metabolism Reports, 2020

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.

Sperb-Ludwig F et al.

Molecular Genetics & Genomic Medicine, 2019

31508908 (PubMed )
Supplement: MGG3-7-e877-s001.xlsx › Plan1

Recent development and gene therapy for glycogen storage disease type Ia.

Chou JY et al.

Liver Research (beijing, China), 2017

Glycogen Storage Disease type 1a - a secondary cause for hyperlipidemia: report of five cases.

Carvalho PM et al.

Journal of Diabetes and Metabolic Disorders, 2013

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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."