Article

Vasor: Accurate prediction of variant effects for amino acid substitutions in MDR3

2022-02-20

Abstract excerpt

<h4>Background / Rationale</h4> The phosphatidylcholine floppase MDR3 is an essential hepatobiliary transport protein. MDR3 dysfunction is associated with various liver diseases, ranging from severe progressive familial intrahepatic cholestasis to transient forms of intrahepatic cholestasis of pregnancy and familial gallstone disease. Single amino acid substitutions are often found as causative of dysfunction, bu...

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Literature Corpus work: ba110e2b-c450-58b6-baaf-fb57b3c48bba
DOI: 10.1101/2022.02.20.481206

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