Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.H2914fs
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KMT2D

NM_003482.4:p.H2914fs

Associated Papers

Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.

Aertgeerts M et al.

Hemasphere, 2025

39944233 (PubMed )
Supplement: HEM3-9-e70085-s003.xlsx › XF98

Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma.

Zhou S et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024

ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.

Zhou Y et al.

Science Advances, 2023

37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data

X-linked agammaglobulinemia associated with B-precursor acute lymphoblastic leukemia.

Hoshino A et al.

Journal of Clinical Immunology, 2015

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

Makrythanasis P et al.

Clinical Genetics, 2013

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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."