A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases (Q57536768)

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27 February 2020

title

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases (English)

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27 February 2020

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Arjen R Mensenkamp

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Richard J Rodenburg

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Koen Van Gassen

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Joris A Veltman

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Hans Scheffer

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Marjolijn J L Ligtenberg

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Han G Brunner

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Lies H Hoefsloot

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Hannie Kremer

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Helger G Yntema

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David A Koolen

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Marcel R Nelen

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Ronny C Derks

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Erik-Jan Kamsteeg

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Liesbeth Spruijt

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Nienke Wieskamp

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Bart van de Warrenburg

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Carlo L M Marcelis

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Rick de Reuver

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Tuula Rinne

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Ilse Feenstra

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Frans P M Cremers

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Dorien Lugtenberg

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author name string

Kornelia Neveling

1

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Danielle Bodmer

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Wendy Buijsman

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Bert van den Heuvel

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Sascha Vermeer

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Jan A M Smeitink

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Saskia B Wortmann

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Wendy A G van Zelst-Stams

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publication date

18 October 2013

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27 February 2020

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27 February 2020

volume

34

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27 February 2020

issue

12

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27 February 2020

page(s)

1721-1726

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A method and server for predicting damaging missense mutations

27 February 2020

cites work

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Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22450

1 reference

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27 February 2020

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