Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q4254*
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KMT2D

NM_003482.4:p.Q4254*

Associated Papers

The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution.

Nguyen DD et al.

Nature, 2024

39385020 (PubMed )
Supplement: 41586_2024_7955_MOESM11_ESM.xlsx › Figure_3e

Multi-omics profiling of longitudinal samples reveals early genomic changes in follicular lymphoma.

Bai B et al.

Blood Cancer Journal, 2024

39191762 (PubMed )
Supplement: 41408_2024_1124_MOESM2_ESM.xlsx › Table_S3

Mutational, immune microenvironment, and clinicopathological profiles of diffuse large B-cell lymphoma and follicular lymphoma with BCL6 rearrangement.

Carreras J et al.

Virchows Archiv : an International Journal of Pathology, 2024

Monitoring of Circulating Tumor DNA Predicts Response to Treatment and Early Progression in Follicular Lymphoma: Results of a Prospective Pilot Study.

Fernández-Miranda I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36269794 (PubMed )
Supplement: ccr-22-1654_supplementary_data_2_suppds2.xlsx › Table_S6__Mutational_data

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D et al.

Human Molecular Genetics, 2018

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."