Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3839*
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KMT2D

NM_003482.4:p.Q3839*

Associated Papers

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.

Yi S et al.

Heliyon, 2023

37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP

The strong association of left-side heart anomalies with Kabuki syndrome.

Yoon JK et al.

Korean Journal of Pediatrics, 2015

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Cheon CK et al.

Journal of Human Genetics, 2014

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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."