ABCC6 p.Arg1235Trp

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PMID: 16086317 [PubMed] Miksch S et al: "Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6."
No. Sentence Comment
294 R1066C in ABCC7 matches R1138W, P, or Q in ABCC6, and R1162X in ABCC7 matches R1235W in ABCC6.
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ABCC6 p.Arg1235Trp 16086317:294:78
status: NEW
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