Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Y5206*
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KMT2D

NM_003482.4:p.Y5206*

Associated Papers

A mutation screen in patients with Kabuki syndrome.

Li Y et al.

Human Genetics, 2011

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

Hannibal MC et al.

American Journal of Medical Genetics. Part A, 2011

MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

Paulussen AD et al.

Human Mutation, 2011

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

Ng SB et al.

Nature Genetics, 2010

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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."