Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D9
Variant:p.E482G
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TBC1D9

NM_015130.3:p.E482G

Associated Papers

A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.

Strautnieks SS et al.

Nature Genetics, 1998

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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."