Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.V18E
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BIN1

NM_139343.3:p.V18E

Associated Papers

Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.

Reumers SFI et al.

Clinical Genetics, 2021

Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1.

Kouwenberg C et al.

Journal of Neuromuscular Diseases, 0

Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy.

Fujise K et al.

The Journal of Biological Chemistry, 0

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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."