Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.A108A
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PMM2

NM_000303.3:p.A108A

Associated Papers

A new insight into PMM2 mutations in the French population.

Le Bizec C et al.

Human Mutation, 2005

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).

Matthijs G et al.

Human Mutation, 2000

PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.

Bjursell C et al.

Human Mutation, 2000

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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."