Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes This cohort study assesses the efficacy of exome-targeted capture sequencing to detect mutations in genes broadly linked to cerebellar ataxia and investigates their prevalence in a large cohort of undiagnosed patients with various phenotypic presentations. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Neurology American Medical Association

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Publisher
American Medical Association
Copyright
Copyright 2018 American Medical Association. All Rights Reserved.
ISSN
2168-6149
eISSN
2168-6157
D.O.I.
10.1001/jamaneurol.2017.5121
Publisher site
See Article on Publisher Site

Abstract

This cohort study assesses the efficacy of exome-targeted capture sequencing to detect mutations in genes broadly linked to cerebellar ataxia and investigates their prevalence in a large cohort of undiagnosed patients with various phenotypic presentations.

Journal

JAMA NeurologyAmerican Medical Association

Published: May 26, 2018

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