A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype

Haematologica. 2021 Apr 1;106(4):1188-1192. doi: 10.3324/haematol.2020.259275.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Fanconi Anemia Complementation Group Proteins
  • Fanconi Anemia* / diagnosis
  • Fanconi Anemia* / genetics
  • Humans
  • Phenotype
  • Ubiquitin-Conjugating Enzymes

Substances

  • Fanconi Anemia Complementation Group Proteins
  • UBE2T protein, human
  • Ubiquitin-Conjugating Enzymes