Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Y5113*
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KMT2D

NM_003482.4:p.Y5113*

Associated Papers

Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort.

Juskevicius D et al.

Journal of Hematology & Oncology, 2017

28302137 (PubMed )
Supplement: 13045_2017_438_MOESM1_ESM.xlsx › Selected_mutations_2016.08.22

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

Makrythanasis P et al.

Clinical Genetics, 2013

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

Hannibal MC et al.

American Journal of Medical Genetics. Part A, 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."