ABCC8 p.Gly1478Val
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PMID: 21536946
[PubMed]
Macmullen CM et al: "Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the beta-cell sulfonylurea receptor SUR1."
No.
Sentence
Comment
196
Diazoxide-responsive mutations: A = D310N, B = R370G, C = R1353H, D = K1374R, E = G1478V, F = G1479R, G = S1386P, H = R1539E, I = I1512T, J = E1507K, and K = R1539Q.
X
ABCC8 p.Gly1478Val 21536946:196:82
status: NEW