Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.S286Splc
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BIN1

NM_139343.3:p.S286Splc

Associated Papers

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

Hohendahl A et al.

Journal of Structural Biology, 2016

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

Garibaldi M et al.

Journal of Neuromuscular Diseases, 2016

Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.

Smith LL et al.

Human Molecular Genetics, 2014

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.

Böhm J et al.

Plos Genetics, 2013

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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."