Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.K35*
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SBDS

NM_016038.4:p.K35*

Associated Papers

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.

Finch AJ et al.

Genes & Development, 2011

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."