Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.Q55fs
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PMM2

NM_000303.3:p.Q55fs

Associated Papers

Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.

Himmelreich N et al.

Molecular Genetics and Metabolism, 2023

Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency

Vurallı D et al.

Journal of Clinical Research in Pediatric Endocrinology, 2022

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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."