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Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia by Kimberly A. Rickman, Francis P. Lach, Avinash Abhyankar, Frank X. Donovan, Erica M. Sanborn, Jennifer A. Kennedy, Carrie Sougnez, Stacey B. Gabriel, Olivier Elemento, Settara C. Chandrasekharappa, Detlev Schindler, Arleen D. Auerbach, Agata Smogorzewska
Published 2015-07-01
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A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype by 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
Published 2020-07-01
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