Varaico: Literature-Extracted Genetic Variants

Gene:TJP2
Variant:p.R283*
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TJP2

NM_004817.4:p.R283*

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

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Almes M et al.

Diagnostics (basel, Switzerland), 2022

35626323 (PubMed )
Supplement: diagnostics-12-01169-s001.zip › diagnostics-1660539-supplementary.pdf
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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."