Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3580_V3581Splc
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KMT2D

NM_003482.4:p.Q3580_V3581Splc

Associated Papers

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

Yi S et al.

Heliyon, 2023

37810849 (PubMed )
Supplement: mmc5.xlsx › Sheet1

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.

Aref-Eshghi E et al.

Epigenetics, 2017

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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."