Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KA3
Variant:p.D211H
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RPS6KA3

NM_004586.3:p.D211H

Associated Papers

Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome.

Labonne JD et al.

Gene, 2016

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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."