Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.P4055delFs
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KMT2D

NM_003482.4:p.P4055delFs

Associated Papers

Growth pattern in Kabuki syndrome with a KMT2D mutation.

Schott DA et al.

American Journal of Medical Genetics. Part A, 2016

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

Makrythanasis P et al.

Clinical Genetics, 2013

MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

Paulussen AD et al.

Human Mutation, 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."