Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3584*
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KMT2D

NM_003482.4:p.Q3584*

Associated Papers

Macroscopic somatic clonal expansion in morphologically normal human urothelium.

Li R et al.

Science (new York, N.y.), 2020

Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma.

González-Rincón J et al.

Plos One, 2019

30802265 (PubMed )
Supplement: pone.0212813.s010.xlsx › Tabla_S4.SNV___Indel

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

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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."