Figure 2 | Scientific Reports

Figure 2

From: Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases

Figure 2

A schema of the variant filtering and selection for identifying pathogenic mutations in GAMT predisposing to guanidinoacetate methyltransferase deficiency. (A) Pedigree of Fam24 with guanidinoacetate methyltransferase deficiency disease. (B) Variant filtering and selection procedure. (C) Sanger sequencing validation of a missense mutation in GAMT.

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