ABCB4 p.Gly742Ser

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PMID: 12891548 [PubMed] Rosmorduc O et al: "ABCB4 gene mutation-associated cholelithiasis in adults."
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63 However, because these mutations affected nonconserved amino acids between the human ABCB4 gene and its rodent homologs, they were not considered as DCMs.13, 14 They were localized in the third intracellular loop and in the fourth extracellular loop of the protein (e.g., Arg590Gln and Gly742Ser).
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ABCB4 p.Gly742Ser 12891548:63:286
status: NEW
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