Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.E560K
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BIN1

NM_139343.3:p.E560K

Associated Papers

[The dynamin-2-gene related centronuclear myopathy].

Bitoun M

Medecine Sciences : M/s, 2023

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

Hohendahl A et al.

Journal of Structural Biology, 2016

Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy.

Gibbs EM et al.

Journal of Molecular Medicine (berlin, Germany), 2013

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Böhm J et al.

Human Mutation, 2012

Defective membrane remodeling in neuromuscular diseases: insights from animal models.

Cowling BS et al.

Plos Genetics, 2012

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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."