Varaico: Literature-Extracted Genetic Variants

Gene:UBE2T
Variant:p.Q37fs
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UBE2T

NM_014176.4:p.Q37fs

Associated Papers

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

Schultz-Rogers L et al.

Haematologica, 2021

Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.

Hira A et al.

American Journal of Human Genetics, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."