Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.P442delFs
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KMT2B

NM_014727.3:p.P442delFs

Associated Papers

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

20711175 (PubMed )
Supplement: NIHMS224006-supplement-1.pdf
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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."