Analysis of the genotype-phenotype correlation in isovaleric acidaemia: a case report of long-term follow-up of a chinese patient and literature review

HIGHLIGHTS

• who: Xiaoli Yu and Dong Li from the University of São Paulo, Brazil have published the research: Analysis of the genotype-phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review, in the Journal: (JOURNAL)
• how: In each of the three steep regions the authors compared the difference in the number of variants between symptomatic and asymptomatic patients and the results showed that the proportion of variants was higher in symptomatic patients than in asymptomatic patients in regions 123-159 and 356- 403 (p . . .
  

   

  

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