PMC8667312_01
PMC8667312_02
(A,B) Individuals carrying the NPRL2 mutation are indicated by "m/+". Individuals with negative mutation are indicated by "+/+", and individuals without blood samples are indicated by "?".
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F1
Results from Sanger sequencing validated these findings and confirmed that both the father and child carried the same variant with a wild-type mother in Family A and B (Figure 1).