Varaico: Literature-Extracted Genetic Variants

Gene:SKI
Variant:p.G117D
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SKI

NM_003036.4:p.G117D

Associated Papers

Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review.

Sjøstrøm E et al.

Clinical Genetics, 2025

Eye Manifestations of Shprintzen-Goldberg Craniosynostosis Syndrome: A Case Report and Systematic Review.

Choi JH et al.

Case Reports in Genetics, 2020

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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."