Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.P3665A
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KMT2D

NM_003482.4:p.P3665A

Associated Papers

Exome analysis links kidney malformations to developmental disorders and reveals causal genes.

Milo Rasouly H et al.

Nature Communications, 2025

40774958 (PubMed )
Supplement: 41467_2025_62319_MOESM1_ESM.pdf

Genomic characterization of DICER1-associated neoplasms uncovers molecular classes.

Kommoss FKF et al.

Nature Communications, 2023

36966138 (PubMed )
Supplement: 41467_2023_37092_MOESM8_ESM.xlsx › Tabelle1

Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.

Okashah S et al.

Genes, 2022

36011280 (PubMed )
Supplement: genes-13-01369-s001.zip › supplementary_tables › Suplemntary_Tables_compressed.zip › Suplemntary_Tables_compressed › Table_S1_2_4.xlsx › Table_S4

Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.

Bruzas S et al.

Cancers, 2021

34572791 (PubMed )
Supplement: cancers-13-04564-s001.zip › cancers-1336427-supplementary › Supplementary_material › Table_S1_-_Genetic_alterations_identified_by_NGS_in_95_patients_with_metastatic_breast_cancer.xlsx › Table_S1

Development and characterization of patient-derived xenografts from non-small cell lung cancer brain metastases.

Baschnagel AM et al.

Scientific Reports, 2021

33510214 (PubMed )
Supplement: 41598_2021_81832_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

Landscape of Genomic Alterations in IDH Wild-Type Glioblastoma Identifies PI3K as a Favorable Prognostic Factor.

Yan Y et al.

Jco Precision Oncology, 2020

IGLV3-21*01 is an inherited risk factor for CLL through the acquisition of a single-point mutation enabling autonomous BCR signaling.

Maity PC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

32047037 (PubMed )
Supplement: pnas.1913810117.sapp.pdf

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_OtherCG
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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."