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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCB11

Variant:p.S457N

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ABCB11

NM_003742.4:p.S457N

hg38:chr2:168973779 C>T

Associated Papers

Clinical and Genetic Spectra of Progressive Familial Intrahepatic Cholestasis With Normal GGT: 31 Pediatric Patients and 16 Novel Variants.

Elkoofy NM et al.

Clinical Genetics, 2026

40537152 (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."