Varaico: Literature-Extracted Genetic Variants

Gene:DOT1L
Variant:p.S269L
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DOT1L

NM_032482.3:p.S269L

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

Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors.

Zhu F et al.

The Journal of International Medical Research, 2024

39053449 (PubMed )
Supplement: sj-xlsx-3-imr-10.1177_03000605241258171.xlsx › Table_S6

Personalized oncogenomics: clinical experience with malignant peritoneal mesothelioma using whole genome sequencing.

Sheffield BS et al.

Plos One, 2015

25798586 (PubMed )
Supplement: pone.0119689.s004.xlsx › Pericolic_SNVs_and_indels
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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."