Varaico: Literature-Extracted Genetic Variants

Gene:PGM3
Variant:p.I481delFs
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PGM3

NM_015599.3:p.I481delFs

Associated Papers

Phenotypic heterogeneity and genotypic spectrum of inborn errors of immunity identified through whole exome sequencing in a Thai patient cohort.

Tengsujaritkul M et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2022

Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.

Ittiwut C et al.

Journal of Clinical Immunology, 2020

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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."