Figure 4 | Scientific Reports

Figure 4

From: Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India

Figure 4

Representative electropherogram of compound heterozygote variants in ATM gene. (A) Chromatogram of Patient reveals heterozygous nonsense variant at c.8473C>T position resulting in termination of translation event at residue 2825, and c.1339 C>T variant in another allele leading to premature termination at residue 447. (B) Chromatogram of father revealed wild type genotype at c.8473 location (C/C) and heterozygous C/T variation at c.1339 position in another allele. (C) Chromatogram of mother revealed heterozygous C/T variant at c.8473 position and wild type C/C genotype at c.1339 position.

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