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Genetic Mutations Associated with Patients' Phenotypes

Explore the impact of various genetic mutations on patient phenotypes. Includes mutations affecting Ile263Thr, Val320Met, Arg453His, and Val698Ala. Data from Patients 18, 39, and 43. Supplementary Figure 1 provided.

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Genetic Mutations Associated with Patients' Phenotypes

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  1. c.788 T>C , p.Ile263Thr a) b) wt wt c.788 T>C, p.Ile263Thr c) d) wt c.958 G>A, p.Val320Met c.958 G>A, p.Val320Met wt e) f) wt c.1358 G>A, p.Arg453His c.1358 G>A, p.Arg453His wt g) h) c.2093 T>C , p.Val698Ala wt wt c.2093 T>C , p.Val698Ala (Patient 18) (Patient 18) (Patient 39) (Patient 39) (Patient 43) (Patient 43) (Patient 39) (Patient 39) Supplementary Figure 1

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