Varaico: Literature-Extracted Genetic Variants

Gene:CACYBP
Variant:p.E177Q
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CACYBP

NM_014412.3:p.E177Q

Associated Papers

Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct.

Kanno M et al.

Journal of Human Genetics, 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."