Supplementary Figure 2: Sanger sequencing of the two variants in affected families.
The c.734A>G (p.Tyr245Cys) variant was identified in families 1–3, and the c.1066G>A (p.Ala356Thr) variant was identified in family 4.
Supplementary Figure 2: Sanger sequencing of the two variants in affected families. | Nature Genetics
