Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.Q1057*
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KANSL1

NM_015443.4:p.Q1057*

Associated Papers

A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells.

Awamleh Z et al.

European Journal of Human Genetics : Ejhg, 2024

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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."