Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R2801*
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KMT2D

NM_003482.4:p.R2801*

Associated Papers

Deciphering the Genomic Landscape of Oropharyngeal Squamous Cell Carcinoma: Distinct Mutation Patterns in Disease.

Hsia B et al.

Life (basel, Switzerland), 2026

Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study.

Gao Z et al.

American Journal of Obstetrics and Gynecology, 2026

Immunohistochemical "null" pattern of all four mismatch repair proteins in Lynch syndrome-associated small bowel adenocarcinoma: a case report and comprehensive genomic profiling.

Kageyama S et al.

Virchows Archiv : an International Journal of Pathology, 2025

Detection of genomic variants by genome sequencing in foetuses with central nervous system abnormalities.

Wang Y et al.

Annals of Medicine, 2024

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

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

Simplified algorithm for genetic subtyping in diffuse large B-cell lymphoma.

Shen R et al.

Signal Transduction and Targeted Therapy, 2023

37032379 (PubMed )
Supplement: 41392_2023_1358_MOESM4_ESM.xlsx › __

Genetic features of B-cell lymphoblastic lymphoma with TCF3-PBX1.

Shirai R et al.

Cancer Reports (hoboken, N.j.), 2022

Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.

Klau J et al.

European Journal of Human Genetics : Ejhg, 2022

34690354 (PubMed )
Supplement: 41431_2021_981_MOESM3_ESM.xlsx › variants

Incorporation of next-generation sequencing in clinical practice using solid and liquid biopsy for patients with non-Hodgkin's lymphoma.

Bastos-Oreiro M et al.

Scientific Reports, 2021

The mutational landscape of histiocytic sarcoma associated with lymphoid malignancy.

Egan C et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

Trans-Ancestry Mutation Landscape of Hepatoblastoma Genomes in Children.

Liu J et al.

Frontiers in Oncology, 2021

33968779 (PubMed )
Supplement: Table_2.xls › USA_PMID27775819_

Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.

Ju Y et al.

Frontiers in Genetics, 2021

34194478 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S6

Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma.

González-Rincón J et al.

Plos One, 2019

30802265 (PubMed )
Supplement: pone.0212813.s010.xlsx › Tabla_S4.SNV___Indel

The prognostic effects of somatic mutations in ER-positive breast cancer.

Griffith OL et al.

Nature Communications, 2018

30181556 (PubMed )
Supplement: 41467_2018_5914_MOESM6_ESM.xlsx › MA12_All_HR_

Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.

Bouska A et al.

Leukemia, 2017

27389057 (PubMed )
Supplement: NIHMS790817-supplement-6.xlsx › Sheet1

Comprehensive genomic profiling of 295 cases of clinically advanced urothelial carcinoma of the urinary bladder reveals a high frequency of clinically relevant genomic alterations.

Ross JS et al.

Cancer, 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."