Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.D160_L161insG
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PMM2

NM_000303.3:p.D160_L161insG

Associated Papers

Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.

Qian Z et al.

Jimd Reports, 2020

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.

Makhamreh MM et al.

Journal of Inherited Metabolic Disease, 2020

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.

van de Kamp JM et al.

Journal of Medical Genetics, 2007

Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?

Léticée N et al.

Molecular Genetics and Metabolism, 0

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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."