Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

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Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia

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Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

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Targeted Next-Generation Seque ...... recision Medicine Perspective.

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Targeted Next-Generation Seque ...... recision Medicine Perspective.

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Targeted Next-Generation Seque ...... recision Medicine Perspective.

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Targeted Next-Generation Seque ...... recision Medicine Perspective.

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Targeted Next-Generation Seque ...... recision Medicine Perspective.

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Beisha Tang

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Dongxue Ding

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Hong Jiang

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Huirong Peng

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Kun Xia

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Rong Qiu

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Wei Ye

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Xuan Hou

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Zhao Chen

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Zhe Long

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A single ataxia telangiectasia gene with a product similar to PI-3 kinase

Fast and accurate short read alignment with Burrows-Wheeler transform

Exome sequencing as a tool for Mendelian disease gene discovery

A new initiative on precision medicine

The autosomal recessive cerebellar ataxias.

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations

Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders.

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

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e0139738

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scholarly article

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10.1371/JOURNAL.PONE.0139738

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English

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2015-10-06T00:00:00Z

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Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

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P2860

P2860

Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.

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P698

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