Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.P543L
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KMT2B

NM_014727.3:p.P543L

Associated Papers

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Digilio MC et al.

American Journal of Medical Genetics. Part A, 2017

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Makrythanasis P et al.

Clinical Genetics, 2013

A mutation screen in patients with Kabuki syndrome.

Li Y et al.

Human Genetics, 2011

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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."