Analysis of Tafazzin and Deoxyribonuclease 1 Like 1 Transcripts and X Chromosome Sequencing in the Evaluation of the Effect of Mosaicism in the TAZ Gene on Phenotypes in a Family Affected by Barth Syndrome
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS（2023）
关键词
Barth syndrome,Mosaicism,Tafazzin transcripts,Targeted next -generation sequencing,Protein modelling
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