Varaico: Literature-Extracted Genetic Variants

Gene:PDP1
Variant:p.S258F
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PDP1

NM_018444.4:p.S258F

Associated Papers

Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism.

Zhang W et al.

Orphanet Journal of Rare Diseases, 2021

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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."