Varaico: Literature-Extracted Genetic Variants

Gene:DOT1L
Variant:p.D157Y
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DOT1L

NM_032482.3:p.D157Y

Associated Papers

Case report and literature review of neurodevelopmental syndrome linked to DOT1L variants.

Caux A et al.

Gene, 2026

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder.

Maroni MJ et al.

Brain : a Journal of Neurology, 2026

Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.

Maroni MJ et al.

Medrxiv : the Preprint Server for Health Sciences, 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."