Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q4347fs
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KMT2D

NM_003482.4:p.Q4347fs

Associated Papers

Clinical Presentation and Molecular Characteristics of Kabuki Syndrome With Congenital Hyperinsulinism: A Retrospective Study.

Gaudillière M et al.

Cureus, 2026

SETD1B mutations confer apoptosis resistance and BCL2 independence in B cell lymphoma.

Portelinha A et al.

The Journal of Experimental Medicine, 2024

39235528 (PubMed )
Supplement: JEM_20231143_TableS3.xlsx › KMT2D_MSK_dataset

Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome.

Lee CL et al.

Diagnostics (basel, Switzerland), 2024

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

Lee CL et al.

Diagnostics (basel, Switzerland), 2024

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

Dramatic increase in gene mutational burden after transformation of follicular lymphoma into TdT+ B-lymphoblastic leukemia/lymphoma.

Belman JP et al.

Cold Spring Harbor Molecular Case Studies, 2020

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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."