Varaico: Literature-Extracted Genetic Variants

Gene:SKI
Variant:p.G116R
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SKI

NM_003036.4:p.G116R

Associated Papers

Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome.

Srivastava P et al.

Molecular Syndromology, 2021

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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."