Varaico: Literature-Extracted Genetic Variants

Gene:EMG1
Variant:p.R42S
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EMG1

NM_006331.8:p.R42S

Associated Papers

Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.

Armistead J et al.

American Journal of Human Genetics, 2009

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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."