Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics-Reference-Cited by-同舟云学术

Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics

Published:2017-08-31 Issue:11 Volume:38 Page:1454-1463
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Wiel Laurens¹²^ORCID,Venselaar Hanka²^ORCID,Veltman Joris A.³⁴^ORCID,Vriend Gert²,Gilissen Christian³^ORCID

Affiliation:

1. Department of Human Genetics Radboud Institute for Molecular Life Sciences Radboud University Medical Center Nijmegen GA 6525 The Netherlands

2. Centre for Molecular and Biomolecular Informatics Radboud Institute for Molecular Life Sciences Radboud University Medical Center Nijmegen GA 6525 The Netherlands

3. Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Center Nijmegen GA 6525 The Netherlands

4. Institute of Genetic Medicine, International Centre for Life Newcastle University Newcastle upon Tyne NE1 3BZ United Kingdom

Funder

Radboud Universitair Medisch Centrum

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23313

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1. Revisiting the morbid genome of Mendelian disorders

2. A method and server for predicting damaging missense mutations