Varaico: Literature-Extracted Genetic Variants

Gene:SKI
Variant:p.G117S
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SKI

NM_003036.4:p.G117S

Associated Papers

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.

Bouhatous YM et al.

Journal of Medical Genetics, 2025

Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle.

Fusco C et al.

Journal of Human Genetics, 2024

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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."