Varaico: Literature-Extracted Genetic Variants

Gene:PLEK
Variant:p.E206D
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PLEK

NM_002664.3:p.E206D

Associated Papers

Dynamin-2 regulates microtubule stability via an endocytosis-independent mechanism.

Guo R et al.

Cytoskeleton (hoboken, N.j.), 2022

Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.

Hohendahl A et al.

Journal of Structural Biology, 2016

Dynamin GTPase regulation is altered by PH domain mutations found in centronuclear myopathy patients.

Kenniston JA et al.

The Embo Journal, 2010

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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."