Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Y2907*
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KMT2D

NM_003482.4:p.Y2907*

Associated Papers

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Banka S et al.

European Journal of Human Genetics : Ejhg, 2012

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

Hannibal MC et al.

American Journal of Medical Genetics. Part A, 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."