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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BIN1

Variant:p.Y157D

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BIN1

NM_139343.3:p.Y157D

hg38:chr2:127068974 A>C

Associated Papers

Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization.

Wu T et al.

Plos One, 2014

24755653 (PubMed )

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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."