Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.S9fs
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KMT2B

NM_014727.3:p.S9fs

Associated Papers

KMT2B-related disorders in Austria: clinical features and long-term outcome after deep brain stimulation.

Indelicato E et al.

Frontiers in Neurology, 2026

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Cif L et al.

Arxiv, 2025

Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report.

Bouhamdani N et al.

Frontiers in Genetics, 2024

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Cif L et al.

Brain : a Journal of Neurology, 2020

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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."