Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.D151N
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DNM2

NM_001005361.3:p.D151N

Associated Papers

N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.

Falcone S et al.

Embo Molecular Medicine, 2014

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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."