Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 2.

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Fig. 2. Electropherogram in the proband and his mother. It revealed two variants of c.899A>C (p.Gln300Pro) and c.2808del (p.Gln937Argfs*133) of CACNA1A (NM_001127221.1) in the proband. The mother had c.2808del (p.Gln937Argfs*133), but had a wild-type sequence at 899 site of bases.
Journal of Genetic Medicine 2021;18:137-41
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