Varaico: Literature-Extracted Genetic Variants

Gene:TJP2
Variant:p.Q842*
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TJP2

NM_004817.4:p.Q842*

Associated Papers

A Novel Compound Heterozygous Mutation in Progressive Familial Intrahepatic Cholestasis (PFIC) 4: A Rare Case Report With Literature Review.

Pandey D et al.

Cureus, 2024

A Rare Case of Progressive Familial Intrahepatic Cholestasis Type 4: A Case Report and Literature Review.

Halabi H et al.

Cureus, 2023

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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."