Varaico: Literature-Extracted Genetic Variants

Gene:POMT1
Variant:p.C667insFs
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POMT1

NM_001077365.2:p.C667insFs

Associated Papers

Congenital muscular dystrophies: new aspects of an expanding group of disorders.

Lisi MT et al.

Biochimica Et Biophysica Acta, 2007

The congenital muscular dystrophies in 2004: a century of exciting progress.

Muntoni F et al.

Neuromuscular Disorders : Nmd, 2004

The role of defective glycosylation in congenital muscular dystrophy.

Schachter H et al.

Glycoconjugate Journal, 2004

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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."