Varaico: Literature-Extracted Genetic Variants

Gene:PGM3
Variant:p.L480fs
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PGM3

NM_001199917.2:p.L480fs

Associated Papers

A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.

Pacheco-Cuéllar G et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017

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."