Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Y5388*
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KMT2D

NM_003482.4:p.Y5388*

Associated Papers

Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.

Paderova J et al.

European Journal of Medical Genetics, 2018

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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."