Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.Q3745*
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KMT2D

NM_003482.4:p.Q3745*

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

Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.

Bouska A et al.

Leukemia, 2017

27389057 (PubMed )
Supplement: NIHMS790817-supplement-6.xlsx › Sheet1
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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."