Varaico: Literature-Extracted Genetic Variants

Gene:CYLD
Variant:p.F718_M719insFs
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CYLD

NM_001378743.1:p.F718_M719insFs

Associated Papers

Genetic Testing in CYLD Cutaneous Syndrome: An Update.

Nagy N et al.

The Application of Clinical Genetics, 2021

Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation.

Tantcheva-Poór I et al.

Dermatology (basel, Switzerland), 2016

The cylindromatosis (CYLD) gene and head and neck tumorigenesis.

Verhoeft KR et al.

Cancers of the Head & Neck, 2016

Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.

Grossmann P et al.

The American Journal of Dermatopathology, 2013

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling.

Blake PW et al.

Human Mutation, 2009

CYLD mutations in familial skin appendage tumours.

Saggar S et al.

Journal of Medical Genetics, 2008

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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."