Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1H
Variant:p.R57P
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ATP6V1H

NM_015941.4:p.R57P

Associated Papers

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast.

Menne TF et al.

Nature Genetics, 2007

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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."