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. 2023 Jul 1;124(1):49–54. doi: 10.1007/s13760-023-02314-x

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Fig. 2 — Electropherograms showing a heterozygous c.55C > T nonsense mutation in the exon 2 of CCM2 gene with a limited reading frame depicting the corresponding amino acid substitution p.R19*, with an early stop codon gained