Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.L1720F
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KMT2B

NM_014727.3:p.L1720F

Associated Papers

Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool.

da Silva Carvalho GF et al.

Clinical Epigenetics, 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."