Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.G6_G8insFs
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KMT2B

NM_014727.3:p.G6_G8insFs

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

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

Episignature analysis of moderate effects and mosaics.

Oexle K et al.

European Journal of Human Genetics : Ejhg, 2023

37365401 (PubMed )
Supplement: 41431_2023_1406_MOESM4_ESM.xlsx › KMT2B
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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."