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Author

Vahid Aslanzadeh

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Open access Sep 2026

Mechanism-selective deep mutational scanning distinguishes ERCC2 disease phenotypes

Pathogenic ERCC2 variants cause xeroderma pigmentosum (XP), trichothiodystrophy (TTD) or both, yet variant effect scores are usually interpreted only as measures of pathogenicity rather than of which disease mechanism is disrupted. XPD, the ERCC2-encoded TFIIH subunit, functions in both nucleotide excision repair and t...

Hasan Çubuk, Vahid Aslanzadeh, Yi-Fei Shang et al. · 0 citations

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