Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.R958_F959insFs
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ABCB11

NM_003742.4:p.R958_F959insFs

Associated Papers

A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure.

Tummala H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

32636268 (PubMed )
Supplement: pnas.2002857117.sapp.pdf
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