Varaico: Literature-Extracted Genetic Variants

Gene:SUFU
Variant:p.T13_P18delFs
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SUFU

NM_016169.4:p.T13_P18delFs

Associated Papers

Rate of germline pathogenic sequence variants in cancer susceptibility genes in an Israeli pediatric and adolescent cancer cohort: a single institute experience.

Nahom D et al.

Familial Cancer, 2025

Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'.

Langenberg KPS et al.

European Journal of Cancer (oxford, England : 1990), 2022

36182817 (PubMed )
Supplement: mmc6.xlsx › Sheet1

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.

Serpieri V et al.

Journal of Medical Genetics, 2022

Landscape of genetic variants in sporadic meningiomas captured with clinical genomics.

Leclair NK et al.

Acta Neurochirurgica, 2022

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

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Waszak SM et al.

The Lancet. Oncology, 2018

29753700 (PubMed )
Supplement: mmc1.pdf
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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."