Varaico: Literature-Extracted Genetic Variants

Gene:SUZ12
Variant:p.R654*
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SUZ12

NM_015355.4:p.R654*

Associated Papers

Functional analysis of human EED variants using Drosophila.

Cyrus SS et al.

Genetics, 2025

40539649 (PubMed )
Supplement: iyaf120_supplementary_data.zip › Supplementary_information_GENETICS-2024-307105.docx

Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient.

Zhao J et al.

Discover Oncology, 2025

40522594 (PubMed )
Supplement: 12672_2025_2967_MOESM1_ESM.pdf

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

López Rivera JJ et al.

Journal of Personalized Medicine, 2024

39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2

Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.

Imagawa E et al.

Clinical Genetics, 2023

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.

Cyrus S et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

Rare SUZ12 variants commonly cause an overgrowth phenotype.

Cyrus SS et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

Blastic plasmacytoid dendritic cell neoplasm: genomics mark epigenetic dysregulation as a primary therapeutic target.

Sapienza MR et al.

Haematologica, 2019

30381297 (PubMed )
Supplement: 2018.202093.SAPIENZA_SUPPL.pdf

Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.

Nasrallah MP et al.

Academic Pathology, 0

31206012 (PubMed )
Supplement: Supplementary_Table_2__1_.xlsx › table_egfrviii_and_solid_panel_
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