Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.S2438fs
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KMT2D

NM_003482.4:p.S2438fs

Associated Papers

Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.

Aukema SM et al.

Familial Cancer, 2023

Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum.

Scala M et al.

Pediatric Blood & Cancer, 2019

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

Makrythanasis P et al.

Clinical Genetics, 2013

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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."