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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PGM3

Variant:p.A480_I481delFs

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PGM3

NM_015599.3:p.A480_I481delFs

hg38:chr6:83170401 GATTGC>G

Associated Papers

Extended clinical phenotypes and long-term outcomes of phosphoglucomutase-3 deficiency.

Wang C et al.

Journal of Human Immunity, 2026

41608055 (PubMed )

PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect.

Yang L et al.

Frontiers in Immunology, 2024

39776909 (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."