Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R5154W
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KMT2D

NM_003482.4:p.R5154W

Associated Papers

HNF1B-related diabetes mellitus in a Korean patient with Kabuki syndrome: a case report and literature review.

Lee S et al.

Annals of Pediatric Endocrinology & Metabolism, 2025

Clinico-hematopathologic and Genetic Characteristics of Korean Patients with Blastic Plasmacytoid Dendritic Cell Neoplasm: A Retrospective Single-center Cohort Study.

Kim J et al.

Annals of Laboratory Medicine, 2025

41093602 (PubMed )
Supplement: ALM3679_Supple0.xlsx › S6

Correlation of KMT2 family mutations with molecular characteristics and prognosis in colorectal cancer.

Liao C et al.

The International Journal of Biological Markers, 2022

35505597 (PubMed )
Supplement: sj-xlsx-3-jbm-10.1177_03936155221095574.xlsx › Sheet1
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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."