Varaico: Literature-Extracted Genetic Variants

Gene:SUFU
Variant:p.E283fs
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SUFU

NM_016169.4:p.E283fs

Associated Papers

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

Trichoblastic carcinosarcoma with panfollicular differentiation (panfollicular carcinosarcoma) and CTNNB1 (beta-catenin) mutation.

Giang J et al.

Journal of Cutaneous Pathology, 2021

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia.

Schröder S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Trichoblastic carcinosarcoma in a 34-year-old woman with histopathologic and molecular analysis, including re-demonstration of a CDKN2A p.(R58*) mutation.

Kim C et al.

Journal of Cutaneous Pathology, 2021

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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."