Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.F2494fs
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KMT2D

NM_003482.4:p.F2494fs

Associated Papers

Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome.

Rosenfeld E et al.

Journal of the Endocrine Society, 2024

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

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.

Nassar A et al.

Current Issues in Molecular Biology, 2022

36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › cancer_driver
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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."