Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.N541Y
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GBE1

NM_000158.4:p.N541Y

Associated Papers

The potential of dietary treatment in patients with glycogen storage disease type IV.

Derks TGJ et al.

Journal of Inherited Metabolic Disease, 2021

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.

Szymańska E et al.

Archives of Medical Science : Ams, 2018

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Pronicka E et al.

Journal of Translational Medicine, 2016

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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."