Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.E2676delFs
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KMT2D

NM_003482.4:p.E2676delFs

Associated Papers

Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.

Taniguchi K et al.

Molecular Genetics & Genomic Medicine, 2025

40078074 (PubMed )
Supplement: MGG3-13-e70092-s002.xlsx › Supplementary_Table_1

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

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

Bögershausen N et al.

Human Mutation, 2016

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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."