Haematologica.2020 Jul;haematol.2020.259275. doi: 10.3324/haematol.2020.259275.Epub 2020-07-09.
UBE2Tのホモ接合型ミスセンス変異は軽度のファンコニー貧血の表現型と関連している
Homozygous missense variant in UBE2T is associated with mild Fanconi anemia phenotype.
- Laura Schultz-Rogers
- Francis P Lach
- Kimberly A Rickman
- Alejandro Ferrer
- Abhishek A Mangaonkar
- Tanya L Schwab
- Christopher T Schmitz
- Karl J Clark
- Nikita R Dsouza
- Michael T Zimmermann
- Mark Litzow
- Nicole Jacobi
- Eric W Klee
- Agata Smogorzewska
- Mrinal M Patnaik
PMID: 32646888 DOI: 10.3324/haematol.2020.259275.
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