Varaico: Literature-Extracted Genetic Variants

Gene:MAMDC2
Variant:p.Y272Y
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MAMDC2

NM_153267.5:p.Y272Y

Associated Papers

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

Kuniba H et al.

Journal of Human Genetics, 2009

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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."