Varaico: Literature-Extracted Genetic Variants

Gene:POMT2
Variant:p.I198N
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POMT2

NM_013382.7:p.I198N

Associated Papers

Muscular dystrophies due to defective glycosylation of dystroglycan.

Muntoni F et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.

Godfrey C et al.

Brain : a Journal of Neurology, 2007

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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."