Varaico: Literature-Extracted Genetic Variants

Gene:PSMD2
Variant:p.S29R
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PSMD2

NM_002808.5:p.S29R

Associated Papers

Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.

Xia Y et al.

Jama Network Open, 2025

40009380 (PubMed )
Supplement: jamanetwopen-e2461888-s001.pdf
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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."