Varaico: Literature-Extracted Genetic Variants

Gene:TJP2
Variant:p.D482G
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TJP2

NM_004817.4:p.D482G

Associated Papers

Baseline analysis of patient reported outcomes in the progressive familial intrahepatic cholestasis patient registry.

Fischer RT et al.

Journal of Pediatric Gastroenterology and Nutrition, 2026

Opinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.

McKiernan P et al.

Jhep Reports : Innovation in Hepatology, 2024

38192535 (PubMed )
Supplement: mmc4.pdf

Molecular overview of progressive familial intrahepatic cholestasis.

Amirneni S et al.

World Journal of Gastroenterology, 2020

Progressive Familial Intrahepatic Cholestasis.

Bull LN et al.

Clinics in Liver Disease, 2018

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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."