Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3720*
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KMT2D

NM_003482.4:p.Q3720*

Associated Papers

Real-life disease monitoring in follicular lymphoma patients using liquid biopsy ultra-deep sequencing and PET/CT.

Jiménez-Ubieto A et al.

Leukemia, 2023

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.

Foroutan A et al.

International Journal of Molecular Sciences, 2022

35163737 (PubMed )
Supplement: ijms-23-01815-s001.zip › ijms-1541287-supplementary_materials › Supplementary_Files › Table_S1.xlsx › Sheet2

Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Yasuda T et al.

Cancer Science, 2020

32619037 (PubMed )
Supplement: CAS-111-3367-s004.xlsx › Sup.Table4

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Krzyzewska IM et al.

Clinical Epigenetics, 2019

31685013 (PubMed )
Supplement: 13148_2019_749_MOESM5_ESM.xlsx › Sheet1

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Butcher DT et al.

American Journal of Human Genetics, 2017

28475860 (PubMed )
Supplement: mmc1.pdf
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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."