Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R5224H
Back to variants list

KMT2D

NM_003482.4:p.R5224H

Associated Papers

Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencing.

Mou JT et al.

Annals of Translational Medicine, 2022

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

A novel pathogenesis concept of biliary atresia approached by combined molecular strategies.

Laochareonsuk W et al.

Plos One, 2022

Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms.

Luo H et al.

European Journal of Human Genetics : Ejhg, 2021

33867526 (PubMed )
Supplement: 41431_2021_886_MOESM2_ESM.xlsx › TableS4

Genomic profiling of Chinese patients with urothelial carcinoma.

Yang B et al.

Bmc Cancer, 2021

33588785 (PubMed )
Supplement: 12885_2021_7829_MOESM3_ESM.xlsx › Germline_variants

Targeted sequencing to identify genetic alterations and prognostic markers in pediatric T-cell acute lymphoblastic leukemia.

Chang YH et al.

Scientific Reports, 2021

33436855 (PubMed )
Supplement: 41598_2020_80613_MOESM1_ESM.pdf

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.

Ma H et al.

Cancer Biomarkers : Section a of Disease Markers, 2020

31958074 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-190236.xlsx › Germline

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

Tracking the origin of simultaneous endometrial and ovarian cancer by next-generation sequencing - a case report.

Valtcheva N et al.

Bmc Cancer, 2017

28103826 (PubMed )
Supplement: 12885_2017_3054_MOESM1_ESM.xlsx › EmCa_caseI_run1

Genetic study of intracranial aneurysms.

Yan J et al.

Stroke, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."