• Mutation; HGNC; HGNC:253; ADH5; Simple; c.564+1G>A (p.Leu188Profs*4); ClinVar=VCV000995826; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=33355142).
  
• Mutation; HGNC; HGNC:253; ADH5; Simple; p.Trp322Ter (c.966delG) (p.Gly321_Trp322insTer); ClinVar=VCV000995825; Zygosity=Homozygous (PubMed=33355142).
  
• Mutation; HGNC; HGNC:404; ALDH2; Simple; p.Glu504Lys (c.1510G>A) (p.Glu487Lys); ClinVar=VCV000018390; Zygosity=Heterozygous; Note=Allele ALDH2*2 (PubMed=33355142).
  

PubMed=33355142; DOI=10.1126/sciadv.abd7197; PMCID=PMC11206199
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