human genetics

Delineation of a new fibrillino-2-pathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome
Silke Peeters, Arne Decramer, Stuart Alan Cain, Peter Houpt, Frederik Verstreken, Jan Noyez, Christophe Hermans, Werner Jacobs, Martin Lammens, Erik Fransen, Ajay Anand Kumar, Geert Vandeweyer, Bart Loeys, Wim Van Hul, Clair Baldock, Eveline Boudin, Geert Mortier

Journal of Medical Genetics Sep 2020, jmedgenet-2020-107085; DOI: 10.1136/jmedgenet-2020-107085
Assessing performance of pathogenicity predictors using clinically relevant variant datasets
Adam C Gunning, Verity Fryer, James Fasham, Andrew H Crosby, Sian Ellard, Emma L Baple, Caroline F Wright

Journal of Medical Genetics Aug 2020, jmedgenet-2020-107003; DOI: 10.1136/jmedgenet-2020-107003

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human genetics

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