Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.E409delFs
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ATP8B1

NM_001374385.1:p.E409delFs

Associated Papers

Clinicopathologic Features, Genetics, Treatment, and Long-Term Outcomes in Japanese Children and Young Adults with Benign Recurrent Intrahepatic Cholestasis: A Multicenter Study.

Kato K et al.

Journal of Clinical Medicine, 2023

Characterization of urinary bile acids in a pediatric BRIC-1 patient: effect of rifampicin treatment.

Mizuochi T et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

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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."