Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.R2460C
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KMT2D

NM_003482.4:p.R2460C

Associated Papers

Sensitive Detection of Cell-Free Tumour DNA Using Optimised Targeted Sequencing Can Predict Prognosis in Gastro-Oesophageal Cancer.

Wallander K et al.

Cancers, 2023

36831507 (PubMed )
Supplement: cancers-15-01160-s001.zip › TableS5.xlsx › Sheet1

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D et al.

Human Molecular Genetics, 2018

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."