Varaico: Literature-Extracted Genetic Variants

Gene:SUFU
Variant:p.E455_F456Splc
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SUFU

NM_016169.4:p.E455_F456Splc

Associated Papers

SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma.

Álvarez-Salafranca M et al.

The Australasian Journal of Dermatology, 2023

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

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

Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin Syndrome.

Askaner G et al.

Case Reports in Genetics, 2019

Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same.

Huq AJ et al.

Familial Cancer, 2018

Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.

Huq AJ et al.

Internal Medicine Journal, 2017

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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."