Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.M3870fs
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KMT2D

NM_003482.4:p.M3870fs

Associated Papers

Butyrate modifies epigenetic and immune pathways in peripheral mononuclear cells from children with neurodevelopmental disorders associated with chromatin dysregulation.

Hayes JP et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025

Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome.

Tsang E et al.

Ebiomedicine, 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."