Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.G134Splc
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KMT2D

NM_003482.4:p.G134Splc

Associated Papers

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D et al.

Human Molecular Genetics, 2018

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Micale L et al.

Human Mutation, 2014

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

Makrythanasis P et al.

Clinical Genetics, 2013

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

Micale L et al.

Orphanet Journal of Rare Diseases, 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."