학위논문(박사) - 한국과학기술원 : 의과학대학원, 2024.2,[v, 90 p. :]
희귀유전성질환▼a전장유전체염기서열분석▼a모세혈관 확장성 운동실조증▼a안티센스올리고뉴클레오티드▼aRNA 미스스플라이싱 (RNA mis-splicing)▼a맞춤의학▼a유전자분석▼a병인유전변이▼a임상응용; Rare diseases▼aWhole genome sequencing▼aAtaxia-telangiectasia▼aRNA mis-splicing▼aAntisense oligonucleotides▼aPersonalized medicine▼aDiagnostic pipeline▼aPathogenic variants▼aTherapeutic targeting▼aClinical translation
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