Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q4364*
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KMT2D

NM_003482.4:p.Q4364*

Associated Papers

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.

Wigby K et al.

American Journal of Medical Genetics. Part A, 2023

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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."