Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.E455*
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KMT2B

NM_014727.3:p.E455*

Associated Papers

Novel heterozygous mutation in KMT2B causing an unusual phenotypic presentation: a comprehensive clinical and bioinformatic analysis.

Iravani F et al.

Molecular Biology Reports, 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."