Clinically relevant copy-number variants in exome sequencing data of patients with dystonia
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Geriatrics and Gerontology,Neurology
Reference12 articles.
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3. Exome sequence read depth methods for identifying copy number changes;Kadalayil;Briefings Bioinf.,2015
4. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders;Pfundt;Genet. Med.,2017
5. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen);Riggs;Genet. Med.,2020
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3. Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders;Neurology Genetics;2023-06
4. Genetic spectrum and clinical features in a cohort of Chinese patients with isolated dystonia;Clinical Genetics;2023-01-24
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