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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCB11

Variant:p.F508del1

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ABCB11

NM_003742.4:p.F508del1

hg38:chr2:168971959 GAGA>G

Associated Papers

In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.

Mareux E et al.

International Journal of Molecular Sciences, 2022

36142670 (PubMed )

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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."