Varaico: Literature-Extracted Genetic Variants

Gene:KANSL1
Variant:p.N334H
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KANSL1

NM_015443.4:p.N334H

Associated Papers

Clinical and genetic characteristics of a case of Koolen-De Vries syndrome caused by KANSL1 gene mutation and literature review: A case report.

Zhang H et al.

Medicine, 2024

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

Myers KA et al.

Plos One, 2018

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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."