Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.Y329F
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GBE1

NM_000158.4:p.Y329F

Associated Papers

Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.

Lee YC et al.

Human Molecular Genetics, 2011

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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."