Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R5027L
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KMT2D

NM_003482.4:p.R5027L

Associated Papers

A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.

Faundes V et al.

Journal of Human Genetics, 2019

Disruption of KMT2D perturbs germinal center B cell development and promotes lymphomagenesis.

Zhang J et al.

Nature Medicine, 2015

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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."