Varaico: Literature-Extracted Genetic Variants

Gene:AGL
Variant:p.R1494Splc
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AGL

NM_000642.3:p.R1494Splc

Associated Papers

Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.

Okubo M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015

DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese.

Lam CW et al.

Molecular Genetics and Metabolism, 2004

Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

Lucchiari S et al.

American Journal of Medical Genetics, 2002

Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.

Okubo M et al.

American Journal of Medical Genetics, 2000

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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."