Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.A2823fs
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KMT2D

NM_003482.4:p.A2823fs

Associated Papers

Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.

Montano C et al.

American Journal of Medical Genetics. Part A, 2022

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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."