Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.I631fs
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EZH2

NM_004456.5:p.I631fs

Associated Papers

Synchronous T-lymphoblastic lymphoma and neuroblastoma in a 3-yr-old with novel germline SMARCA4 and EZH2 variants.

Tibout P et al.

Cold Spring Harbor Molecular Case Studies, 2023

The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Villani A et al.

Nature Cancer, 2023

36585449 (PubMed )
Supplement: 43018_2022_474_MOESM10_ESM.xlsx › Table_S6_-_Category_D_variants
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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."