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Novel pathogenic frameshift mutation in the POLH gene contributes to xeroderma pigmentosum variant type in a 16-year-old girl

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Bibliographic Details
Main Authors: Dietrich, Carmen (Author) , Salzmann, Martin (Author) , Streit, Enrico (Author) , Toberer, Ferdinand (Author) , Emmert, Steffen (Author) , Dikow, Nicola (Author) , Hänßle, Holger (Author)
Format: Article (Journal) Editorial
Language:English
Published: 2021
In: Australasian journal of dermatology
Year: 2021, Volume: 62, Issue: 4, Pages: e615-e617
ISSN:1440-0960
DOI:10.1111/ajd.13724
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1111/ajd.13724
Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/ajd.13724
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Author Notes:Carmen Dietrich, Martin Salzmann, Enrico Streit, Ferdinand Toberer, Steffen Emmert, Nicola Dikow, Holger Haenssle

MARC

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