Varaico: Literature-Extracted Genetic Variants

Gene:PSMD8
Variant:p.L33insFs
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PSMD8

NM_002812.5:p.L33insFs

Associated Papers

Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

Rake JP et al.

European Journal of Pediatrics, 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."