Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.E81*
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KMT2D

NM_003482.4:p.E81*

Associated Papers

Viral and Genomic Drivers of Squamous Cell Neoplasms Arising in the Lacrimal Drainage System.

Ramberg I et al.

Cancers, 2022

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Digilio MC et al.

American Journal of Medical Genetics. Part A, 2017

RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.

Kato S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27683183 (PubMed )
Supplement: 10780432ccr161679-sup-168576_1_supp_3636667_wcc1ns.docx

The strong association of left-side heart anomalies with Kabuki syndrome.

Yoon JK et al.

Korean Journal of Pediatrics, 2015

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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."