Varaico: Literature-Extracted Genetic Variants

Gene:CYLD
Variant:p.L752delFs
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CYLD

NM_001378743.1:p.L752delFs

Associated Papers

Genetic Testing in CYLD Cutaneous Syndrome: An Update.

Nagy N et al.

The Application of Clinical Genetics, 2021

Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD gene.

Parren LJMT et al.

Archives of Dermatological Research, 2018

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

Epithelioid leiomyosarcoma arising in the subcutis--a new case report of a rare variant.

Teixeira V et al.

The American Journal of Dermatopathology, 2014

Three mutations of CYLD gene in Chinese families with multiple familial trichoepithelioma.

Lv H et al.

The American Journal of Dermatopathology, 2014

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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."