Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.P2146L
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KMT2D

NM_003482.4:p.P2146L

Associated Papers

Germline variants in early and late-onset Brazilian prostate cancer patients.

Coelho KBCA et al.

Urologic Oncology, 2024

Erythroid Differentiation Enhances RNA Mis-Splicing in SF3B1-Mutant Myelodysplastic Syndromes with Ring Sideroblasts.

Moura PL et al.

Cancer Research, 2024

37921711 (PubMed )
Supplement: can-23-3038_data_s1_suppsd1.xlsx › Deidentified_clinical_data

Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.

Al Saati A et al.

International Journal of Molecular Sciences, 2023

37762649 (PubMed )
Supplement: ijms-24-14348-s001.zip › Supplemental_table_S1_VUS_-_ALL_VUS.xlsx › MATADOR_compare_byvariant_p0.05

Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.

Frauenfeld L et al.

Blood Advances, 2022

34654055 (PubMed )
Supplement: advancesADV2021006034-suppl1.pdf

Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.

Kernan KF et al.

Journal of Clinical Immunology, 2022

34973142 (PubMed )
Supplement: 10875_2021_1183_MOESM7_ESM.xlsx › data.and.gnomad.MAF.chi.sq.BH.c

Somatic Mutations in Circulating Cell-Free DNA and Risk for Hepatocellular Carcinoma in Hispanics.

Jiao J et al.

International Journal of Molecular Sciences, 2021

34299031 (PubMed )
Supplement: ijms-22-07411-s001.zip › Supplementary_Table__S3_Final.pdf

Comprehensive Molecular Characterization of Adamantinoma and OFD-like Adamantinoma Bone Tumors.

Ali NM et al.

The American Journal of Surgical Pathology, 2019

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.

Li AH et al.

Genome Medicine, 2017

29089047 (PubMed )
Supplement: 13073_2017_482_MOESM6_ESM.xlsx › TableS5-_ClinicalCohortLookup
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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."