Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.S2431_A2432delFs
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KMT2D

NM_003482.4:p.S2431_A2432delFs

Associated Papers

KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans.

Kalinousky AJ et al.

Genes, 2023

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

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Choufani S et al.

American Journal of Human Genetics, 2022

36130591 (PubMed )
Supplement: mmc2.xlsx › Table_S3
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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."