Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.A2980fs
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KMT2D

NM_003482.4:p.A2980fs

Associated Papers

Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.

Lee CL et al.

Diagnostics (basel, Switzerland), 2024

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

Lee CL et al.

Diagnostics (basel, Switzerland), 2024

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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."