Varaico: Literature-Extracted Genetic Variants

Gene:DPM2
Variant:p.G10E
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DPM2

NM_003863.4:p.G10E

Associated Papers

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Barone R et al.

Annals of Neurology, 2012

A single point mutation resulting in an adversely reduced expression of DPM2 in the Lec15.1 cells.

Pu L et al.

Biochemical and Biophysical Research Communications, 2003

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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."