Varaico: Literature-Extracted Genetic Variants

Gene:KDM2B
Variant:p.C616W
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KDM2B

NM_032590.5:p.C616W

Associated Papers

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

van Oirsouw ASE et al.

Human Molecular Genetics, 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."