Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3898*
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KMT2D

NM_003482.4:p.Q3898*

Associated Papers

Diagnostic and prognostic genomic aberrations in upper tract urothelial carcinoma can be identified in focal barbotage samples.

Axelsson TA et al.

Bju International, 2025

39654327 (PubMed )
Supplement: BJU-135-792-s001.xlsx › Sheet1

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.

Yi S et al.

Heliyon, 2023

37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP

Adult-type granulosa cell tumor of the ovary: a FOXL2-centric disease.

Pilsworth JA et al.

The Journal of Pathology. Clinical Research, 2021

33428330 (PubMed )
Supplement: CJP2-7-243-s002.xlsx › Table_S2
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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."