Varaico: Literature-Extracted Genetic Variants

Gene:PGM3
Variant:p.N246insFs
Back to variants list

PGM3

NM_015599.3:p.N246insFs

Associated Papers

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

Yang L et al.

Frontiers in Immunology, 2024

Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.

Lipiński P et al.

Diagnostics (basel, Switzerland), 2021

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

Liu XR et al.

Frontiers in Genetics, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."