Varaico: Literature-Extracted Genetic Variants

Gene:PGM3
Variant:p.Q478*
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PGM3

NM_015599.3:p.Q478*

Associated Papers

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

Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance.

Liu XR et al.

Frontiers in Genetics, 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."