Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3843*
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KMT2D

NM_003482.4:p.Q3843*

Associated Papers

Non-invasive monitoring of diffuse large B-cell lymphoma by cell-free DNA high-throughput targeted sequencing: analysis of a prospective cohort.

Bohers E et al.

Blood Cancer Journal, 2018

30069017 (PubMed )
Supplement: 41408_2018_111_MOESM2_ESM.pdf

Deep sequencing reveals clonal evolution patterns and mutation events associated with relapse in B-cell lymphomas.

Jiang Y et al.

Genome Biology, 2014

25123191 (PubMed )
Supplement: 13059_2014_432_MOESM4_ESM.xlsx › Patient_2

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

Makrythanasis P et al.

Clinical Genetics, 2013

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Banka S et al.

European Journal of Human Genetics : Ejhg, 2012

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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."