Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.A294fs
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ABCB4

NM_000443.4:p.A294fs

Associated Papers

Clinical and genetic characterization of pediatric patients with progressive familial intrahepatic cholestasis type 3 (PFIC3): identification of 14 novel ABCB4 variants and review of the literatures.

Chen R et al.

Orphanet Journal of Rare Diseases, 2022

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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."