Selected research
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A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.
Haematologica
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A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.
Haematologica
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Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic FANCA variant.
Cold Spring Harbor molecular case studies
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