Varaico: Literature-Extracted Genetic Variants

Gene:TJP1
Variant:p.G50R
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TJP1

NM_001330239.4:p.G50R

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

40251428 (PubMed )
Supplement: 10038_2025_1338_MOESM1_ESM.docx
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