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. Author manuscript; available in PMC: 2011 Apr 1.
Published in final edited form as: Genet Med. 2010 Apr;12(4 Suppl):S111–S154. doi: 10.1097/GIM.0b013e3181d68293

Results Summary.

Num Gene Region(G) Nucl. Change A.A. Change Genotype Region(P) Region Type(P) Class
1 KCNH2 exon 8 1969 G>A Gly 657 Ser G/A S6 Transmembrane I
2 KCNE1 exon 4 112 G>A Gly 38 Ser G/A N-Terminal N-Terminal III
3 KCNH2 exon 11 2690 A>C Lys 897 Thr C/C C-Terminal C-Terminal III