Varaico: Literature-Extracted Genetic Variants

Gene:PGM3
Variant:p.R49T
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PGM3

NM_015599.3:p.R49T

Associated Papers

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

Yang L et al.

Frontiers in Immunology, 2024

Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.

Fusaro M et al.

Journal of Clinical Immunology, 2021

Temporospatial genomic profiling in glioblastoma identifies commonly altered core pathways underlying tumor progression.

Blomquist MR et al.

Neuro-oncology Advances, 0

32743548 (PubMed )
Supplement: vdaa078_suppl_supplementary_table_9.xlsx › SomaticMutations
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