Varaico: Literature-Extracted Genetic Variants

Gene:SUFU
Variant:p.A25fs
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SUFU

NM_016169.4:p.A25fs

Associated Papers

Exploring the Genetic and Clinical Landscape of Dedifferentiated Endometrioid Carcinoma.

Haraga H et al.

International Journal of Molecular Sciences, 2025

40362376 (PubMed )
Supplement: ijms-26-04137-s001.zip › Supplementary_Table_S1.xlsx › Case2_undifferentiated

Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.

Siegert S et al.

Pediatric Neurology, 2024

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_12

Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group.

Guerrini-Rousseau L et al.

Journal of Medical Genetics, 2022

35768194 (PubMed )
Supplement: jmedgenet-2021-108385supp005.pdf

Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.

Gargallo P et al.

Cancers, 2021

Copy number signatures and mutational processes in ovarian carcinoma.

Macintyre G et al.

Nature Genetics, 2018

30104763 (PubMed )
Supplement: NIHMS78219-supplement-3.xlsx › mutated_cases

Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.

Guerrini-Rousseau L et al.

Neuro-oncology, 2018

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