Varaico: Literature-Extracted Genetic Variants

Gene:CYP3A5
Variant:p.E76K
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CYP3A5

NM_000777.5:p.E76K

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

Polymorphisms of human cytochrome P450 2C9 and the functional relevance.

Zhou SF et al.

Toxicology, 2010

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