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This page is a summary of: The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene, BMC Genetics, February 2016, Springer Science + Business Media,
DOI: 10.1186/s12863-016-0346-9.
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