Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3908*
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KMT2D

NM_003482.4:p.Q3908*

Associated Papers

Multisite clinical cross-validation and variant interpretation of a next generation sequencing panel for lymphoid cancer prognostication.

Sabatini PJB et al.

Journal of Clinical Pathology, 2025

38182402 (PubMed )
Supplement: jcp-78-3-s002.xlsx › Supplementary_Table_2

Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.

Nishi E et al.

American Journal of Medical Genetics. Part A, 2024

Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Gao F et al.

Cancer Medicine, 2023

36971051 (PubMed )
Supplement: CAM4-12-10267-s001.xlsx › Sheet1

Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Gao F et al.

Frontiers in Genetics, 2021

34925435 (PubMed )
Supplement: DataSheet2.xlsx › Sheet1

Growth pattern in Kabuki syndrome with a KMT2D mutation.

Schott DA et al.

American Journal of Medical Genetics. Part A, 2016

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Makrythanasis P et al.

Clinical Genetics, 2013

MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

Paulussen AD et al.

Human Mutation, 2011

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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."