Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R4455H
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KMT2D

NM_003482.4:p.R4455H

Associated Papers

Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and Diagnosis.

Samarkhanova D et al.

Journal of Clinical Medicine, 2025

Clinical Practice of Targeted Capture Sequencing to Identify Actionable Alterations in Cholangiocarcinoma.

Ma K et al.

Cancers, 2022

36291846 (PubMed )
Supplement: cancers-14-05062-s001.zip › Supplementary_Tables.xlsx › Table_S3

The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.

Li Z et al.

Bmc Musculoskeletal Disorders, 2020

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM3_ESM.xlsx › Sheet1
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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."