• Mutation; HGNC; HGNC:253; ADH5; Simple; p.Trp322Ter (c.966delG); 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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PubMed=33512438; DOI=10.1182/blood.2020009111
An-Feng Mu, Asuka Hira, Akira Niwa, Mitsujiro Osawa, Kenichi Yoshida, Minako Mori, Yusuke Okamoto, Kazuko Inoue, Keita Kondo, Masato T. Kanemaki, Tomonari Matsuda ...Show all 19 authors... , Etsuro Ito, Seiji Kojima, Tatsutoshi Nakahata, Seishi Ogawa, Keigo Tanaka, Keitaro Matsuo, Megumu K. Saito, Minoru Takata; Show fewer authors
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