Varaico: Literature-Extracted Genetic Variants

Gene:STAC3
Variant:p.D278_D279del1
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STAC3

NM_145064.3:p.D278_D279del1

Associated Papers

Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort.

Schoonen M et al.

European Journal of Human Genetics : Ejhg, 2025

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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."