Varaico: Literature-Extracted Genetic Variants

Gene:SUFU
Variant:p.Q432_I433Splc
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SUFU

NM_016169.4:p.Q432_I433Splc

Associated Papers

Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.

Alba-Pavón P et al.

Cancers, 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

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

Guerrini-Rousseau L et al.

Neuro-oncology, 2018

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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."