Varaico: Literature-Extracted Genetic Variants

Gene:POMT1
Variant:p.A641V
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POMT1

NM_007171.4:p.A641V

Associated Papers

Genetic alterations of protein-o-mannosyltransferase-1 in glioneuronal and glial brain tumors with subarachnoid spread.

Snoei J et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2009

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."