Varaico: Literature-Extracted Genetic Variants

Gene:DIABLO
Variant:p.V26D
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DIABLO

NM_001371333.1:p.V26D

Associated Papers

Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64.

Cheng J et al.

American Journal of Human Genetics, 2011

Apollon ubiquitinates SMAC and caspase-9, and has an essential cytoprotection function.

Hao Y et al.

Nature Cell Biology, 2004

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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."