ABCB1 p.Arg673Gln
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PMID: 20876623
[PubMed]
Siikala E et al: "Persistent Candida albicans colonization and molecular mechanisms of azole resistance in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patients."
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76
a Mutations A736T, N977D, N972S, E461K, R673Q and H741Y found in TAC1 alleles have previously been described as gain-of-function (GOF) mutations.
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ABCB1 p.Arg673Gln 20876623:76:40
status: NEW130 Twelve different mutations (A736T, N977D, N972S, E461K, R673Q, H741Y, S108N, P276L, S290C, F973S, N740S and N740D) were found in total.
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ABCB1 p.Arg673Gln 20876623:130:56
status: NEW