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Sequence chromatograms of patients 1–7, the unaffected II-2 of family 2, and a control. The single base substitution from A to G at nucleotide 865 in CACNA1S gene is predicted to cause a change in amino acid isoleucine (Ile) to valine (Val) at amino acid residue 289 (c.865A>G; p.Ile289Val).
