Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.E493*
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SMC1A

NM_006306.4:p.E493*

Associated Papers

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

Deardorff MA et al.

American Journal of Human Genetics, 2007

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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."