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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPS6KA3

Variant:p.V109Splc

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RPS6KA3

NM_004586.3:p.V109Splc

hg38:chrX:20204021 C>A

Associated Papers

Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome.

Tise CG et al.

Journal of Investigative Medicine High Impact Case Reports, 0

35638718 (PubMed )

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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."