Varaico: Literature-Extracted Genetic Variants

Gene:PGM3
Variant:p.L452_K453delFs
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PGM3

NM_015599.3:p.L452_K453delFs

Associated Papers

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

Liu XR et al.

Frontiers in Genetics, 2020

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

Zhang Y et al.

The Journal of Allergy and Clinical Immunology, 2014

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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."