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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDCD1

Variant:p.L79_F82delFs

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PDCD1

NM_005018.3:p.L79_F82delFs

hg38:chr2:241852810 GGAAGGCGGCCA>G

Associated Papers

C-Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease.

Vieira Da Cruz A et al.

Journal of Medicinal Chemistry, 2025

40951993 (PubMed )

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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."