Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KA3
Variant:p.V109fs
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RPS6KA3

NM_004586.3:p.V109fs

Associated Papers

First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.

Song A et al.

Annals of Pediatric Endocrinology & Metabolism, 2023

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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."