Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.G5189R
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KMT2D

NM_003482.4:p.G5189R

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

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D et al.

Human Molecular Genetics, 2018

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Miyake N et al.

American Journal of Medical Genetics. Part A, 2013

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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."