Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective
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Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
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1. The natural history of ataxia-telangiectasia (A-T): A systematic review;PLOS ONE;2022-03-15
2. Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias;Parkinsonism & Related Disorders;2021-08
3. Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines;Child's Nervous System;2020-07-09
4. The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy;Journal of Human Genetics;2018-06-18
5. Ataxia-Telangiectasia;Atlas of Genetic Diagnosis and Counseling;2017
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