Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.Q1057_E1058delFs
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KANSL1

NM_015443.4:p.Q1057_E1058delFs

Associated Papers

The same genomic variants in the first three exons of KANSL1 can be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure.

L'Erario FF et al.

Genes & Diseases, 2025

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