Varaico: Literature-Extracted Genetic Variants

Gene:KMT2A
Variant:p.R8insFs
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KMT2A

NM_001197104.2:p.R8insFs

Associated Papers

A validated heart-specific model for splice-disrupting variants in childhood heart disease.

Lesurf R et al.

Genome Medicine, 2024

39402625 (PubMed )
Supplement: 13073_2024_1383_MOESM7_ESM.xlsx › Table_S7

Inhibin-Positive "Cholangioblastic" Variant of Intrahepatic Cholangiocarcinoma: Report of 3 New Patients With Review of the Literature.

Bakhshwin A et al.

International Journal of Surgical Pathology, 2023

Thyroid-Like Cholangiocarcinoma: Histopathological, Immunohistochemical, In-Situ Hybridization and Molecular Studies on an Uncommon Emerging Entity.

Hissong E et al.

International Journal of Surgical Pathology, 2021

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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."