Varaico: Literature-Extracted Genetic Variants

Gene:CYLD
Variant:p.L780*
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CYLD

NM_001378743.1:p.L780*

Associated Papers

A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.

Wang FX et al.

Archives of Dermatological Research, 2010

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

A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma.

Huang TM et al.

Clinical and Experimental Dermatology, 2009

CYLD mutations in familial skin appendage tumours.

Saggar S et al.

Journal of Medical Genetics, 2008

A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma.

Lv HL et al.

Journal of Dermatological Science, 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."