Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.N5079fs
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KMT2D

NM_003482.4:p.N5079fs

Associated Papers

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

Van Laarhoven PM et al.

Human Molecular Genetics, 2015

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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."