Varaico: Literature-Extracted Genetic Variants

Gene:KMT2B
Variant:p.A1632delFs
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KMT2B

NM_014727.3:p.A1632delFs

Associated Papers

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

Makrythanasis P et al.

Clinical Genetics, 2013

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

Micale L et al.

Orphanet Journal of Rare Diseases, 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."