Varaico: Literature-Extracted Genetic Variants

Gene:PGM3
Variant:p.T464I
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PGM3

NM_015599.3:p.T464I

Associated Papers

Persistent Neutropenia and Atopy in an Adolescent: A Subtle Presentation of Phosphoglucomutase 3 Deficiency.

Fonseca M et al.

Cureus, 2025

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

Yang L et al.

Frontiers in Immunology, 2024

Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features.

García-García A et al.

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