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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ABCB5

Variant:p.R537H

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ABCB5

NM_001163941.2:p.R537H

hg38:chr7:20658579 G>A

Associated Papers

A Rare ABCB5 Variant in a Familial Case of Intrahepatic Cholestasis of Pregnancy: A Potential Novel Genetic Contributor.

Kędzia M et al.

Journal of Clinical Medicine, 2025

40869443 (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."