Article

Computing pathogenicity of mutations in human cytochrome P450 superfamily

2025-02-08

Abstract excerpt

<h4>ABSTRACT</h4> Cytochrome P450 (CYP) are heme-containing enzymes involved in the metabolism of drugs and endogenous compounds. Humans have 57 known CYPs, with >200 mutations linked to severe disorders, highlighting their role in disease etiology. To investigate their pathogenicity, we performed an in-depth computational study, comparing pathogenic mutations with non-pathogenic ones. First, we evaluated the eff...

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Literature Corpus work: a6bc430b-54a3-53fb-8621-3b4bda29f00e
DOI: 10.1101/2025.02.07.637054

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