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Fig. 3 | Journal of Genetic Engineering and Biotechnology

Fig. 3

From: Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka

Fig. 3

Reported nonsense variant, c.19del in CBS gene (p. Gln7Argfs*75*) in exon 1. a Mutation Surveyor® V4.0.10 images indicating the homozygous substitution point; R indicates the reference CBS sequence, and S indicates the study sample CBS sequence. b Protein prediction using Mutalyzer 3. c Superimposed image of predicted mutated protein with wild-type CBS protein (P35520 CBS_HUMAN), red indicates the mutated protein

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