ABCC7 p.Val97Ala

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PMID: 15504721 [PubMed] Ge N et al: "Direct comparison of the functional roles played by different transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore."
No. Sentence Comment
103 Block was particularly strong in L333A, V97A, and I336A.
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ABCC7 p.Val97Ala 15504721:103:40
status: NEW
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PMID: 26574590 [PubMed] Kharrazi M et al: "Newborn Screening for Cystic Fibrosis in California."
No. Sentence Comment
108 [1210-12[5]];[1210-34TG[11]] (IVS8 (TG)11-5T)f 1 2 c.531delT (663delT) / c.314T.A (I105N)e 1 3 c.1521_1523delCTT (F508del) / c.1841A.G (D614G)e 1 3 c.1521_1523delCTT (F508del) / c.290T.C (V97A)e 1 3 c.1519_1521delATC (I507del) / c.
X
ABCC7 p.Val97Ala 26574590:108:188
status: NEW
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