Varaico: Literature-Extracted Genetic Variants

Gene:ANP32B
Variant:p.R150delFs
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ANP32B

NM_006401.3:p.R150delFs

Associated Papers

Truncation of alphaB-crystallin by the myopathy-causing Q151X mutation significantly destabilizes the protein leading to aggregate formation in transfected cells.

Hayes VH et al.

The Journal of Biological Chemistry, 2008

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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."