Varaico: Literature-Extracted Genetic Variants

Gene:TJP2
Variant:p.A273fs
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TJP2

NM_004817.4:p.A273fs

Associated Papers

Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level.

Khabou B et al.

Journal of Human Genetics, 2025

Two Novel Pathogenic Variants of TJP2 Gene and the Underlying Molecular Mechanisms in Progressive Familial Intrahepatic Cholestasis Type 4 Patients.

Tang J et al.

Frontiers in Cell and Developmental Biology, 2021

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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."