Varaico: Literature-Extracted Genetic Variants

Gene:CYLD
Variant:p.K767*
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CYLD

NM_001378743.1:p.K767*

Associated Papers

Genetic Testing in CYLD Cutaneous Syndrome: An Update.

Nagy N et al.

The Application of Clinical Genetics, 2021

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A et al.

Clinical Genetics, 2020

31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated

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

A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib.

Baur V et al.

Virchows Archiv : an International Journal of Pathology, 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

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

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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."