Varaico: Literature-Extracted Genetic Variants

Gene:PFKM
Variant:p.Q447_I448Splc
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PFKM

NM_000289.6:p.Q447_I448Splc

Associated Papers

Polyglucosan storage myopathies.

Hedberg-Oldfors C et al.

Molecular Aspects of Medicine, 2015

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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."