Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.L2430insFs
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KMT2D

NM_003482.4:p.L2430insFs

Associated Papers

Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.

Usluer E et al.

American Journal of Medical Genetics. Part A, 2022

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."