RNA Sequencing Combining with Whole Exome Sequencing Reveals a Compound Heterozygous Variant in ATM in a Girl with Atypical Ataxia-Telangiectasia
Clinica Chimica Acta（2021）
关键词
Ataxia-telangiectasia,ATM,RNA sequencing,Whole exome sequencing,Dual-omics
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