Varaico: Literature-Extracted Genetic Variants

Gene:ATPAF2
Variant:p.E240K
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ATPAF2

NM_145691.4:p.E240K

Associated Papers

Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model.

Meulemans A et al.

The Journal of Biological Chemistry, 2010

Chaperones of F1-ATPase.

Ludlam A et al.

The Journal of Biological Chemistry, 2009

The molecular chaperone, Atp12p, from Homo sapiens. In vitro studies with purified wild type and mutant (E240K) proteins.

Hinton A et al.

The Journal of Biological Chemistry, 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."