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
LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3.
Chauhan PK et al.
Scientific Reports, 2022
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB et al.
Nature Communications, 2020
33339817 (PubMed )
Supplement: 41467_2020_20086_MOESM4_ESM.xlsx › Data_S2
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