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Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency

Lookup NU author(s): Dr Richard Gallon

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Author(s): Sehested A, Meade J, Scheie D, Østrup O, Bertelsen B, Misiakou MA, Sarosiek T, Kessler E, Melchior LC, Munch-Petersen HF, Pai RK, Schmuth M, Gottschling H, Zschocke J, Gallon R, Wimmer K

Publication type: Article

Publication status: Published

Journal: Human Mutation

Year: 2022

Volume: 43

Issue: 1

Pages: 85-96

Print publication date: 01/01/2022

Online publication date: 24/11/2021

Acceptance date: 03/11/2021

Date deposited: 27/10/2022

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004

Publisher: Wiley

URL: https://doi.org/10.1002/humu.24299

DOI: 10.1002/humu.24299

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