Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3988*
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KMT2D

NM_003482.4:p.Q3988*

Associated Papers

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.

Xiang J et al.

Orphanet Journal of Rare Diseases, 2024

39252126 (PubMed )
Supplement: 13023_2024_3340_MOESM3_ESM.xlsx › Sheet1

Salivary gland cancer organoids are valid for preclinical genotype-oriented medical precision trials.

Ishikawa T et al.

Iscience, 2023

37207275 (PubMed )
Supplement: mmc10.xlsx › Sheet1

Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.

Liu R et al.

Cancer Science, 2023

36601880 (PubMed )
Supplement: CAS-114-1229-s004.xlsx › Mutation_information_

Targeted Deep Sequencing of Mycosis Fungoides Reveals Intracellular Signaling Pathways Associated with Aggressiveness and Large Cell Transformation.

Wobser M et al.

Cancers, 2021

34771672 (PubMed )
Supplement: cancers-13-05512-s001.zip › cancers-1392442-supplementary.xlsx › Supplementary_Table_S3

Emerging role of mutations in epigenetic regulators including MLL2 derived from The Cancer Genome Atlas for cervical cancer.

Li X

Bmc Cancer, 2017

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

Comprehensive Genomic Profiling of Advanced Penile Carcinoma Suggests a High Frequency of Clinically Relevant Genomic Alterations.

Ali SM et al.

The Oncologist, 2016

Genomic and molecular characterization of esophageal squamous cell carcinoma.

Lin DC et al.

Nature Genetics, 2014

24686850 (PubMed )
Supplement: NIHMS573166-supplement-1.pdf

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Miyake N et al.

American Journal of Medical Genetics. Part A, 2013

Analysis of the coding genome of diffuse large B-cell lymphoma.

Pasqualucci L et al.

Nature Genetics, 2011

21804550 (PubMed )
Supplement: NIHMS308546-supplement-1.pdf
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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."