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A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

Lookup NU author(s): Dr Richard GallonORCiD, Dr Harsh Sheth, Christine HayesORCiD, Dr Gillian Borthwick, Professor Sir John BurnORCiD, Dr Michael JacksonORCiD, Dr Mauro Santibanez Koref

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Author(s): Gallon R, Müglegger B, Wenzel S-S, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Feldman HB, Chong AL, Demirsoy U, Florkin B, Imschweller T, Januskiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alanso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K

Publication type: Article

Publication status: Published

Journal: Human Mutation

Year: 2019

Volume: 40

Issue: 5

Pages: 649-655

Print publication date: 01/05/2019

Online publication date: 10/02/2019

Acceptance date: 10/02/2019

Date deposited: 07/03/2019

ISSN (print): 1059-7794

ISSN (electronic): 1098-1004

Publisher: John Wiley & Sons, Inc.

URL: https://doi.org/10.1002/humu.23721

DOI: 10.1002/humu.23721

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